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This study aimed to investigate the effects of auxin types and their concentrations on rooting of the rootstock cuttings and BA on grafting. First, IBA, NAA or IBA+NAA, each at 0, 1000, 2000, and 3000 ppm were used as treatments to study rooting of Piper colubrinum. In the second experiment, BA (0 and 50 ppm) was applied to P. nigrum scion clones of Natar-1 and Petaling-2, before being grafted to the rootstocks. Results showed, that all types of auxins (IBA, NAA or IBA+NAA) induced rooting and shoot growth, and the increase of auxin concentrations led to the increase of rooting. However, their effectiveness was different. NAA and IBA+NAA were superior to IBA, and at 2000 ppm, IBA+NAA resulted in the best plant growth, as indicated by higher values of both rooting and shoot growth parameters. Compared to control, BA treatment on scions resulted in higher grafting success (80% vs. 93%) for Natar-1, and (73% vs.100%) for Petaling-2 clones. BA treatment on scions also induced more calluses in the graft union and better shoot growth. To our knowledge, this is the first report on the use of BA to increase success of grafting between P. nigrum and P. colubrinum.

Abstract Background Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues. Infantile-onset Pompe disease (IOPD) patients present within the first year of life with profound hypotonia and hypertrophic cardiomyopathy. Treatment with enzyme replacement therapy (ERT) has significantly improved survival for this otherwise lethal disorder. This study aims to describe the clinical and molecular spectrum of Malaysian IOPD patients, and to analyze their long term treatment outcomes. Methods Seventeen patients diagnosed with IOPD between 2000 and 2020 were included in this retrospective cohort study. Clinical and biochemical data were collated and analyzed using descriptive statistics. GAA enzyme levels were performed on dried blood spots. Molecular analysis of the GAA gene was performed by polymerase chain reaction and Sanger sequencing. Structural modelling was used to predict the effect of the novel mutations on enzyme structure. Results Our cohort had a median age of presentation of 3 months and median age of diagnosis of 6 months. Presenting features were hypertrophic cardiomyopathy (100%), respiratory insufficiency (94%), hypotonia (88%), failure to thrive (82%), feeding difficulties (76%), and hepatomegaly (76%). Fourteen different mutations in the GAA gene were identified, with three novel mutations, c.1552-14_1552-1del, exons 2–3 deletion and exons 6–10 deletion. The most common mutation identified was c.1935C > A p.(D645E), with an allele frequency of 33%. Sixteen patients received ERT at the median age of 7 months. Overall survival was 29%. Mean age of death was 17.5 months. Our longest surviving patient has atypical IOPD and is currently 20 years old. Conclusions This is the first study to analyze the genotype and phenotype of Malaysian IOPD patients, and has identified the c.1935C > A p.(D645E) as the most common mutation. The three novel mutations reported in this study expands the mutation spectrum for IOPD. Our low survival rate underscores the importance of early diagnosis and treatment in achieving better treatment outcomes.

Health cadres play a vital role as community educators and frontline workers in the stunting handling program. Maternal knowledge regarding adequate nutrition for toddlers from pregnancy to birth is a crucial factor in preventing stunting, as it influences the mother's choices in terms of food ingredients and diversity. Pandeglang Regency is among the 100 priority cities/regencies in stunting reduction efforts. This activity aims to provide training to enhance the knowledge and capacity of Integrated Health Post (Posyandu) cadres in stunting, anthropometry, and nutrition. The trained cadres will be able to actively contribute to stunting prevention programs in the targeted stunting locus area of the Pandeglang Regency. The training methods include classroom training, Posyandu simulations, advocacy, and licensing. The exercise focuses on three stunting locus villages: Kedeumaneh, Kadeubelang, and Medong. Knowledge improvement was evaluated through pre-test and post-test assessments, followed by simulations conducted at each Posyandu location. The results indicated that 30 cadre respondents demonstrated increased knowledge after the training (p-value = 0.044). Furthermore, the simulation results revealed that the cadres were able to accurately perform anthropometric measurements.

Elderly, chronic disease, depression, health perception, dependency level, which affect the quality of life of the elderly. Various interventions are needed by the elderly to overcome the decline in mobility related to age. The purpose of this study is to identify the effectiveness of stretching exercise on the quality of life and functional status of the elderly with type 2 diabetes mellitus. test group design with one intervention group. The total sample in this study was 30 elderly with type 2 diabetes. The sample was taken using a consecutive sampling technique. The intervention given was stretching exercise for 4 weeks. The Wilcoxon Signed Ranks Test statistical test showed that there was a difference between before and after the stretching exercise intervention on the functional status of the elderly, quality of life, general health dimensions, physical health, and social with a p-value (p=0.00), but there is no relationship on the psychological health and environmental dimension. Based on the results of the study, it can be concluded that stretching exercises can improve physical fitness, muscle mass and joint flexibility which have an impact on functional status and quality of life of the elderly. It is hoped that stretching exercise can be used as one nursing independent treatment to improve the quality of life of and increasing the independence of the elderly through the provision of education and regular physical exercise.

Diuron herbicide has been used in the pineapple plantation in Lampung, Indonesia, for more than 35 years. It has been realized that the use of herbicides with the same mode of action intensively can speed up the evolution of resistant weeds over a long period of time. This study aimed to determine whether Dactyloctenium aegyptium from pineapple plantation has evolved resistance to diuron and to examine whether the resistance correlates with the weed physiological activities. The study was conducted at the University of Lampung, from September 2018 to March 2019. The study consisted of two stages, i.e. Stage 1: Weed resistance test and Stage 2: Physiological activity test on resistant weed. The study used a split-plot design. The main plot was the origins of weeds (exposed and unexposed to diuron) and thhe supplots was the diuron dose. The result showed that D. aegyptium exposed has high-level resistance to diuron. The physiological activities of D. aegyptium which has a high level of diuron resistance exhibited higher carbon assimilation, stomatal conductance, and transpiration rates than the sensitive D. aegyptium.

Home and the residential environment are one of the risk factors for stunting. The level of knowledge determines residents' behavior, and knowledge is influenced by the exposure to information that a person receives. The purpose of community service activities is counseling about healthy homes and healthy behavior to Baduta mothers (children under two years) in the stunting locus, Langensari village, Pandeglang district. Extension activities were carried out on September 20, 2019, in Langensari village, Saketi District, Pandeglang Regency. Before the activity was carried out, the team carried out advocacy and licensing at the Saketi District Health Center and the Langensari Village Head. The method used in this activity is advocacy and socialization of activities and activities using extension media using posters and brochures. The target of the counseling is the Baduta mother. Participants will be assessed whether there is increased knowledge about healthy homes and healthy behavior before and after counseling (pre-post-test). The result of the educational activity was that the extension participants consisted of 39 Baduta mothers. The difference in the mean score of the pre-post-test was 0.821, and the extension activities could increase the participants' knowledge before and after counseling (p = 0.018).

Penelitian ini bertujuan untuk mengetahui pengaruh berbagai jenis auksin terhadap beberapa konsentrasi terhadap pengakaran Piper colubrinum. Percobaan dilaksanakan di Rumah Kaca Fakultas Pertanian Universitas Lampung dari bulan Mei 2018 sampai Desember 2018. Percobaan menggunakan rancangan acak lengkap dengan 3 ulangan. perlakuan yang mengaplikasikan: kontrol, IBA 1500 ppm, IBA 2000 ppm, NAA 2000 ppm, NAA 750 ppm + IBA 750 ppm, NAA 1000 ppm + IBA 1000 ppm. Hasil penelitian menunjukkan bahwa pada variabel jumlah akar primer di buku pada perlakuan NAA 750 ppm + IBA 750 ppm nilai rata-rata meningkat yaitu 21 helai dibandingkan kontrol 2,5 helai. Pada perlakuan NAA 750 ppm + IBA 750 ppm berpengaruh pada peningkatan jumlah akar primer di penampang batang yaitu 14 dibandingkan dengan kontrol 11 helai. Demikian perlakuan NAA 750 ppm + IBA 750 ppm berpengaruh pada peningkatan jumlah akar primer yaitu 34,3 helai dibandingkan dengan kontrol 13,5 helai. Untuk variabel bobot basah akar nilai rata-rata NAA 750 ppm + IBA 750 ppm yaitu 11,8 g, nilai rata-rata ini lebih tinggi dibandingkan semua perlakuan.

Abstract Background Elagolix is effective and safe for treating menorrhagia in women with uterine fibroid. However, it is reported to be associated with hypoestrogenism that can be alleviated by adding estradiol/norethindrone acetate. This systematic review and meta-analysis aimed to determine the effectiveness of elagolix treatment in women with heavy menstrual bleeding associated with uterine fibroid by comparing: elagolix versus placebo and elagolix versus estradiol/norethindrone acetate. Methodology The Cochrane Central Register of Controlled Trials (CENTRAL 2021, Issue 3 of 12), MEDLINE databases (1980 to December week 1, 2020), and trial registries for relevant randomized clinical trials were used. All randomized clinical trials were reviewed and evaluated. Random effects models were used to estimate the dichotomous outcomes and mean differences with 95% confidence intervals. Data for risk of bias, heterogeneity, sensitivity, reporting bias and quality of evidence were assessed. Results Four randomized controlled trials with 1949 premenopausal women from 323 locations were included. Elagolix improved menstrual blood loss of less than 80 ml (RR 4.81, 95% CI 2.45 to 9.45; four trials, 869 participants; moderate quality evidence) or more than 50% reduction from baseline (RR 4.87, 95% CI 2.55 to 9.31; four trials, 869 participants; moderate quality evidence) compared to placebo. There was no difference in menstrual blood loss of less than 80 ml (RR 1.08, 95% CI 1.00 to 1.16; five trials, 1365 participants; moderate quality evidence) or more than 50% reduction from baseline between the elagolix (RR 1.08, 95% CI 1.01 to 1.15; five trials, 1365 participants; high quality evidence) and elagolix with estradiol/norethindrone acetate. In both comparisons, elagolix has reduced the mean percentage change in uterine and fibroid volume, improved symptoms, and health-related quality of life. More patients had hot flush, and bone mineral density loss in the elagolix treatment compared to both placebo and elagolix with estradiol/norethindrone acetate. Conclusions Elagolix appeared to be effective in reducing heavy menstrual bleeding caused by uterine fibroid and combination with estradiol/norethindrone acetate was able to alleviate the hypoestrogenism side effects in premenopausal women. Review registration PROSPERO CDR 42021233898.

Correlation of macronutrient intake with body mass index, blood sugar levels, and total blood protein in drug users Background: Random blood sugar level and total blood protein need to be measured among drug users because their macronutrient intakes (carbohydrates, fat, protein, and energy) are not appropriate to the pattern of daily habits before uses drugs. Drug users had decreased appetite during the influence and withdrawal symptoms of drugs with the impacts on their body mass index (BMI). Objective: To analyze the correlation of macronutrient intakes between the random blood sugar level, total blood protein, and BMI drug users. Methods: This research was conducted with a cross-sectional design and observational study. 73 drug users were included in the study with the screening by inclusion criteria. 24-hour food recall was used to collect the macronutrient intakes, random blood sugar levels and total blood protein were monitored by the GOD-PAP method, and BMI was measured by weight and height. Data analysis used Pearson’s correlation test in bivariate and multivariate was carried out by multiple linear regressions. Results: Pearson’s correlation analysis showed that there was a significant correlation between macronutrient intakes (energy, carbohydrate, fat) with random blood sugar level, total blood protein, and BMI. BMI was the most affected by energy (β=0.531), random blood sugar level was the most affected by carbohydrates (β=0.073), and total blood protein was the most affected by protein (β=0.837). Conclusions: Macronutrient intake is significantly related to BMI, random blood sugar levels, and total blood protein in drug users. Community collaboration with related parties such as the public health service and National Narcotics Agency will very quickly detect drug side effects early on eating disorders that will affect the nutritional status of its users.

Background. Glycogen storage disease type 1a (GSD1a) is a rare autosomal recessive metabolic disorder characterized by hypoglycaemia, growth retardation, lactic acidosis, hepatomegaly, hyperlipidemia, and nephromegaly. GSD1a is caused by a mutation in the G6PC gene encoding glucose-6-phosphatase (G6Pase); an enzyme that catalyses the hydrolysis of glucose-6-phosphate (G6P) to phosphate and glucose. Objective. To elaborate on the clinical findings, biochemical data, molecular genetic analysis, and short-term prognosis of 13 GSD1a patients in Malaysia. Methods. The information about 13 clinically classified GSD1a patients was retrospectively studied. The G6PC mutation analysis was performed by PCR-DNA sequencing. Results. Patients were presented with hepatomegaly (92%), hypoglycaemia (38%), poor weight gain (23%), and short stature (15%). Mutation analysis revealed nine heterozygous mutations; eight previously reported mutations (c.155 A > T, c.209 G > A, c.226 A > T, c.248 G > A, c.648 G > T, c.706 T > A, c.1022 T > A, c.262delG) and a novel mutation (c.325 T > C). The most common mutation found in Malaysian patients was c.648 G > T in ten patients (77%) of mostly Malay ethnicity, followed by c.248 G > A in 4 patients of Chinese ethnicity (30%). A novel missense mutation (c.325 T > C) was predicted to be disease-causing by various in silico software. Conclusions. The establishment of G6PC molecular genetic testing will enable the detection of presymptomatic patients, assisting in genetic counselling while avoiding the invasive methods of liver biopsy.

Abstract Background Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate, leading to skeletal and other systemic impairments. Data on MPS IVA in Asian populations are scarce. Methods This is a multicentre descriptive case series of 21 patients comprising all MPS IVA patients in Malaysia. Mutational analysis was performed by PCR and Sanger sequencing of the GALNS gene in 17 patients. Results The patients (15 females and 6 males) had a mean age (± SD) of 15.5 (± 8.1) years. Mean age at symptom onset was 2.6 (± 2.1) years and at confirmed diagnosis was 6.9 (± 4.5) years. The study cohort included patients from all the main ethnic groups in Malaysia – 57% Malay, 29% Chinese and 14% Indian. Common presenting symptoms included pectus carinatum (57%) and genu valgum (43%). Eight patients (38%) had undergone surgery, most commonly knee surgeries (29%) and cervical spine decompression (24%). Patients had limited endurance with lower mean walking distances with increasing age. GALNS gene analysis identified 18 distinct mutations comprising 13 missense, three nonsense, one small deletion and one splice site mutation. Of these, eight were novel mutations (Tyr133Ser, Glu158Valfs*12, Gly168*, Gly168Val, Trp184*, Leu271Pro, Glu320Lys, Leu508Pro). Mutations in exons 1, 5 and 9 accounted for 51% of the mutant alleles identified. Conclusions All the MPS IVA patients in this study had clinical impairments. A better understanding of the natural history and the clinical and genetic spectrum of MPS IVA in this population may assist early diagnosis, improve management and permit timely genetic counselling and prenatal diagnosis.

Introduction: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder characterized by developmental delay, seizures, hypotonia, ataxia, skin rash/eczema, alopecia, conjunctivitis/visual problem/optic atrophy and metabolic acidosis. Delayed diagnosis may lead to irreversible neurological damage. Methodology: Clinically suspected patients were screened for biotinidase level by a fluorometry method. Profound BD patients were confirmed by mutation analysis of BTD gene. Results: 9 patients had biotinidase activity of less than 77 U. 3 patients (33%) had profound BD while 6 patients (67%) had partial BD. Compound heterozygous mutations were detected at c.98_104delinsTCC p.(Cys33Phefs*36) in Exon 2 and c.833T>C p.(Leu278Pro) in Exon 4 in two patients and a homozygous mutation at c.98_104delinsTCC p.(Cys33Phefs*36) in Exon 2 in another patient. Conclusion: Correct diagnosis lead to early treatment and accurate management of patient. Biochemical screening of BD in symptomatic child is prerequisite to determine enzyme status however molecular confirmation is vital in differentiating individuals with profound biotinidase deficiency from partial biotinidase deficiency and also individuals' carriers. Keywords: Biotin, Biotinidase deficiency, Newborn screening, Mutation, Acylcarnitine

Effectiveness of the application of organic matter and Trichoderma viride from suppresive soil to control fusarium wilt on banana plant. Fusarium wilt disease caused by Fusarium oxysporum f.sp. cubense is one of the problems in banana production. This research was aimed to evaluate the effect of Trichoderma viride isolated from suppresive soil and organic matter on controlling fusarium wilt on banana plant. The efficcacy trial consisted of 12 treatments and four replications within each treatment. Each experimental unit consisted of 10 plants. Organic matters used were rice straw, cassava peel, and compost. Treatments were arranged in a randomized complete block design. Data obtained were analyzed by analysis of variance followed by orthogonal analysis (P≤0.05). Application of T. viride suppressed disease incident up to 65%. The highest disease incident occurred in plants treated without T. viride and organic matter and in plants treated with organic matter only (78.33%). Disease incidence in plants treated with T.viride was lower than those treated with the combination of T. viride and organic matter. Different application times (in nursery or soil medium) did not significantly affect fusarium wilt incidence. The type of organic matter did not significantly affect the incidence and severity of fusarium wilt.

Background: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inborn error of gluconeogenesis. We reported the clinical findings and molecular genetic data in seven Malaysian patients with FBPase deficiency. Methods: All patients diagnosed with FBPase deficiency from 2010 to 2015 were included in this study. Their clinical and laboratory data were collected retrospectively. Results: All the patients presented with recurrent episodes of hypoglycemia, metabolic acidosis, hyperlactacidemia and hepatomegaly. All of them had the first metabolic decompensation prior to 2 years old. The common triggering factors were vomiting and infection. Biallelic mutations in FBP1 gene (MIM*611570) were identified in all seven patients confirming the diagnosis of FBPase deficiency. In four patients, genetic study was prompted by detection of glycerol or glycerol-3-phosphate in urine organic acids analysis. One patient also had pseudo-hypertriglyceridemia. Seven different mutations were identified in FBP1, among them four mutations were new: three point deletions (c.392delT, c.603delG and c.704delC) and one splice site mutation (c.568-2A > C). All four new mutations were predicted to be damaging by in silico analysis. One patient presented in the neonatal period and succumbed due to sepsis and multi-organ failure. Among six survivors (current age ranged from 4 to 27 years), four have normal growth and cognitive development. One patient had short stature and another had neurological deficit following status epilepticus due to profound hypoglycemia. Conclusion: FBPase deficiency needs to be considered in any children with recurrent hypoglycemia and metabolic acidosis. Our study expands the spectrum of FBP1 gene mutations. Key Words: Fructose-1,6-bisphosphatase, FBPase deficiency, FBP1 gene mutation

MicroRNAs (miRNAs) are mostly located at cancer-associated genomic regions or in fragile sites, suggesting their important role in the pathogenesis of human cancers. Multiple myeloma (MM) is a cancer of plasma cells, the third most common cancer of the blood after lymphoma and leukaemia. There are several published reports on miRNAs in MM, however most used bone marrow rather than peripheral blood samples. The aim of this study is to characterise miRNA expression in normal and MM patients using peripheral blood samples as it is less invasive and is readily available from patients. Blood samples from 35 MM patients were analysed using the microarray method. We identified up-regulation of 36 miRNAs (57%) and down-regulation of 27 miRNAs (43%). We also identified the CCND2, HMGA2 and IGF1R genes were among the highly predictive target genes (PCT> 0.80) for most of the deregulated miRNAs. These genes are known to play important roles in MM as well as other cancers. Five miRNAs (let-7c, miR-16, miR- 449, miR-181a and miR-181b) were found to exhibit similar expression patterns (p < 0.05) in peripheral blood when compared to data obtained by using bone marrow aspirates from MM patients in other studies. In conclusion, our study has demonstrated that miRNAs are also present and differentially expressed in the peripheral blood of MM patients compared to controls and may potentially serve as candidate tumour biomarkers in MM. In particular, let-7c and miR-16 have been shown to be significantl expressed in the bone marrow. [ABSTRACT FROM AUTHOR]

This research aimed to study effects of IBA, NAA and their combination on rooting and shoot sprouting in Malay apple cuttings. Cuttings from superior genotype were collected and treated with (in ppm w/w): 0, 2000 IBA, 4000 IBA, 2000 NAA, 4000 NAA, 1000 IBA+1000 NAA, 2000 IBA+2000 NAA. To record the timing and percentage of rooting, cuttings were treated with (in ppm w/w) 1000 IBA+1000 NAA or without auxin as control. The results revealed that application of auxin was significantly enhanced root formation as shown by the significant increases in rooting percentage and number of roots. NAA at 2000 or 4000 ppm was the most effective auxin to promote root formation (100 %, 17.8–25.5 roots per cuttings), followed by NAA+IBA (100 %, 16.8– 9.8 roots per cuttings) and the least effective was IBA alone (79-100 %, 3.2–7.1 roots per cutting). The best treatment for rooting and shoot sprouting were (in ppm) 1000 IBA+1000 NAA, since it produced higher root length, better root morphology and higher shoot sprouting. It was also found that a combination of IBA+NAA each at 1000 ppm not only enhanced root percentage, but also shortened the time for root formation.

Dendrobium (Orchidaceae) is one of the most popular orchid genera consisting more than 2000 species, which is widely known for its long vaselife, various, shapes and colors, high frequency of flowering per year and long and flexible stalks, so it is easily assembled for flower arrangements. The objectives of this research was to study the effects of different host trees and position of plant attachment at the tree on growth of Dendrobium seedlings. This experiment was conducted with treatments arranged factorally (3 X 2) in a completely randomized design with three replicates. The first factor was the species of host three consisted of Akasia (Acacia auriculiformis), Cemara Bundel (Cupressus retusa) and Kerai Payung (Filicium decipiens) and the second factor was position of plant attachment on the tree, which consisted of attachment at the bottom ( 0,5 m above ground ) and the upper was ( 1,5 m above ground ). Each experimental unit consisted of two Dendrobium seedlings. The results showed that in general both host trees and position of attachment did not affect number of shoots, number of leaves, plant height and the longest root length. however, different host trees and its interaction with the position of attachment affected the number of roots, resulted in the highest number of roots obtained in Kerai Payung (Fillicium decipiens) at 1,5 m above ground. Keywords: Acacia auriculiformis, Cupressus retusa, host tree, Filicium decipiens, orchid.

Forest area of Balik Bukit Resort allocated as regions of natural preservation. This area hasmany potential/natural resources that could be developed. This area is located at BukitBarisan Selatan National Park which have diverse types of flora, including various types oforchids. Approximately there were 154 typeof orchids in this area(Indonesia Institute ofSciences, 2011). This research aims were to know the population and distribution patterns ofEria spp orchids.This research was conducted in August 2015. The method used is the doubleplots systematically method with sampling intensity (SI) 0.1%. The size of each swath of 20 mx 20 m and the total area of the Balik Bukit Resort was 3,560 ha, so that the total number ofsample plots were 90 units. The observed variables were types of Orchid, Orchid populationsand patterns of spread of Eria spp. Based on the results of the study, there were 10 different types of Eria spp.. Eria iridifolia found most of 22.50 individuals/ha compared to other typesof orchids Eria. Followed by the type of E. erecta of 14.72 individuals/ha E. flavescens andtype of 8.33 individuals/ha. Whereas other types is E. discolor, E. javanica, E. junghunii, E.mucronata, E. oblitterata, E. retusa, E. robusta has a density of 1 — 4 individuals/ha.Distribution pattern of the orchids E. discolor, E. erecta, E. flavescens, E. iridifolia, E.javanica, E. mucronata, E. obletterata, and E. retusa enter into the category of a huddle.While the orchids E. junghunii belonging to the category of uniform and the orchids E.robusta into random categories. Keywords: distribution pattern, Eria spp. orchids, population

Argininosuccinate lyase (ASL) deficiency impairs the function of the urea cycle that detoxifies blood ammonia in the body. Mutation that occurs in the ASL gene is the cause of occurrence of ASL deficiency (ASLD). This deficiency causes hyperammonemia, hepatopathy and neurodevelopmental delay in patients. In this study, the clinical characteristics and molecular analysis of 10 ASLD patients were presented. 8 patients were associated with severe neonatal onset, while the other 2 were associated with late onset. Molecular analysis of ASL gene identified four new missense variants, which were c.778C>T, p.(Leu260Arg), c.1340G>C, p.(Ser447Thr), c.436C>G, p.(Arg146Gly) and c.595C>G, p.(Leu199Val) and four reported missense variants, which were c.638G>A, p.(Arg213Gln); c.556C>T, p.(Arg186Trp), c.578G>A, p.(Arg193Gln) and c.436C>G, p.(Arg146Trp). In silico servers predicted all new and reported variants as disease-causing. Structural examination exhibited that all pathogenic variants affected the stability of the tetrameric ASL structure by disturbing the bonding pattern with the neighboring residues. Conclusion: This study revealed the genetic heterogeneity among Malaysian ASL patients. This study has also expanded the mutational spectrum of the ASL. Keywords: Argininosucinate lyase deficiency, ASLD, Autosomal recessive, Mutation, Hyperammonemia

The organizational performance at Punjab healthcare is crucial and often faces stock-outs of critical medicines and equipment at emergency department of different hospitals, which increased the mortality rate. Therefore, the study determined the effect of disruptive factors and inventory control as a mediator on organizational performance. Quantitative method with survey questionnaires on a 200-sample size through cluster sampling was used. SPSS and AMOS were used to examine Exploratory Factor Analysis, Confirmatory Factor Analysis, and Structural Equation Modeling. The results found full mediation with a significant positive effect between study variables. Further, the study indicated that strict compliance of standardized operating procedures, professionally well-equipped staff, stock availability, and accurate inventories could reduce costs with improved service quality. This study is useful for the public healthcare facilities, ministries managing inventories and body of knowledge. Finally, the backlog inventories at public sector organizations need to be researched in future.

Tuberculosis (TB) is a contagious disease caused by the group of Mycobacterium bacteria, Mycobacterium tuberculosis. There are six countries with the highest number of TB incidents in the world, including Indonesia with a prevalence of 1,020 per 100,000 inhabitants located second after India. Based on the results of monitoring and evaluation of Tuberculosis External Monitoring Mission Team in 2008, the success of treatment is still low. Many factors that influence the success of tuberculosis treatment one of them is the level of knowledge. This study aims to see and prove whether there is a relationship of knowledge level to the success of treatment in patients with tuberculosis and done cross-sectional. The result of the research shows that there are 45 respondents (80,4%) and the knowledge level of the respondent has good knowledge, 22 people (39,3%) from 56 samples. From the results of statistical tests using Chi-Square test obtained P value> 0.05 is 0.069.

Tuberculosis is a disease of global concern. By 2015 six countries contributing to 60% of the global total are India, Indonesia, China, Nigeria, Pakistan and South Africa. China, India and Indonesia alone accounted for 45% of cases in the world.The World Health Organization (WHO)has recommended the Directly Observed Treatment Shortcourse (DOTS) strategy for TB control by involving Drug Supervisors (PMO). It aims to achieve patient recovery, prevent transmission, and avoid drug resistant cases. This study aims to determine the relation between the roles of treatment observers (PMO) with the success of tuberculosis treatment at community health center of Johar Baru Central Jakarta in 2016.This research was conducted by Cross-Sectional non-experimental quantitative method. Population and sample are the patient of adult pulmonary and extrapulmonary tuberculosis at community health center of Johar Baru Central Jakarta in 2016. Samples are selected by using Simple Random Sampling. The data were collected by interview using questionnaire. Data analysis using SPSS with Chi-Square test.There were 45 respondents (80,4%) succeed in TB treatment and respondent with PMO roles category were 40 (71,4%). Result of statistical test using Chi-Square test obtained P value = 1,000 (> 0,05).There is no relation between the roles of treatment observers (PMO) with the success of tuberculosis treatment at community health center of Johar Baru Central Jakarta in 2016.

Pompe’s disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe’s disease with progressive proximal muscles weakness over 5 years and respiratory failure on admission, requiring prolonged mechanical ventilation. Electromyography showed evidence of myopathic process with small amplitudes, polyphasic motor unit action potentials, and presence of pseudomyotonic discharges. Muscle biopsy showed glycogen-containing vacuoles in the muscle fibers consistent with glycogen storage disease. Genetic analysis revealed two compound heterozygous mutations at c.444C>G (p.Tyr148*) in exon 2 and c.2238G>C (p.Trp746Cys) in exon 16, with the former being a novel mutation. This mutation has not been reported before, to our knowledge. The patient was treated with high protein diet during the admission and subsequently showed good clinical response to enzyme replacement therapy with survival now to the eighth year. Conclusion. In patients with late-onset adult Pompe’s disease, careful evaluation and early identification of the disease and its treatment with high protein diet and enzyme replacement therapy improve muscle function and have beneficial impact on long term survival.

Existing conventional antithrombosis drugs have caused many side effects, opening up opportunities for the development of new thrombotic drugs. There is potential to use the hispidulin-rich fraction of sesewanua (HRFS) as a new antithrombotic. The oral route limitation of hispidulin, as a low water solubility and non-polar compound, can be addressed. This study explores the potential of HRFS in the form of dissolving microneedles (DMN). The formula was created using polymers such as polyvinyl alcohol (PVA), polyvinyl pyrrolidone K-30 (PVP), and non-ionic surfactant. Ex vivo permeation studies found that 184.95 µg/cm 2 of hispidulin was released 60 h after the best formulation. After 14 days of applying HRFS-DMN, the anticoagulant and antioxidant activity in male albino rats showed higher Activated Partial Thromboplastin Time (aPTT) and Prothrombin Time (PT) values and lower Inter Cellular Adhesion Molecule-1 (ICAM-1) values. No statistically significant differences were found between the effects of two and four HRFS-DMN and the injection of heparin at a dosage of 200 IU per kilogram. However, notable distinctions were observed when comparing HRFS-DMN to negative controls, oral and quercetin as positive controls at anti-ICAM activity. The findings confirmed the feasibility of HRFS-DMN for thrombosis and its effectiveness in delivering Hispidulin (HIS) into the bloodstream. This DMN is non-irritating, safe, and painless, showing promising outcomes in enhancing the efficacy of thrombosis treatment via the transdermal route., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier B.V.)

Itraconazole (ITZ) is one of the broad-spectrum antifungal agents for treating fungal keratitis. In clinical use, ITZ has problems related to its poor solubility in water, which results in low bioavailability when administered orally. To resolve the issue, we formulated ITZ into the inclusion complex (ITZ-IC) system using β-cyclodextrin (β-CD), which can potentially increase the solubility and bioavailability of ITZ. The molecular docking study has confirmed that the binding energy of ITZ with the β-CD was -5.0 kcal/mol, indicating a stable conformation of the prepared inclusion complex. Moreover, this system demonstrated that the inclusion complex could significantly increase the solubility of ITZ up to 4-fold compared to the pure drug. Furthermore, an ocular drug delivery system was developed through dissolving microneedle (DMN) using polyvinyl pyrrolidone (PVP) and polyvinyl alcohol (PVA) as polymeric substances. The evaluation results of DMN inclusion complexes (ITZ-IC-DMN) showed excellent mechanical strength and insertion ability. In addition, ITZ-IC-DMN can dissolve rapidly upon application. The ex vivo permeation study revealed that 75.71% (equivalent to 3.79 ± 0.21 mg) of ITZ was permeated through the porcine cornea after 24 h. Essentially, ITZ-IC-DMN exhibited no signs of irritation in the HET-CAM study, indicating its safety for application. In conclusion, this study has successfully developed an inclusion complex formulation containing ITZ using β-CD in the DMN system. This approach holds promise for enhancing the solubility and bioavailability of ITZ through ocular administration.

Skin aging occurs naturally as essential skin components gradually decline, leading to issues such as fine lines, wrinkles, and pigmentation. Fucoidan, a natural bioactive compound, holds potential for addressing these age-related concerns. However, its hydrophilic nature and substantial molecular weight hinder its absorption into the skin. In this study, we utilized polyvinyl pyrrolidone K30 (PVP) and polyvinyl alcohol (PVA) as polymers to fabricate dissolving microneedles loaded with fucoidan (DMN-F). The DMN-F formulations were examined for physical characteristics, stability, permeability, toxicity, and efficacy in animal models. These formulations exhibited consistent polymer blends with a conical structure and uniform cone-shaped design. Microneedle structure and penetration capability gradually decreased with increasing fucoidan concentration, with storage recommended at approximately 33 % relative humidity (RH). Ex vivo studies showed that DMN-F efficiently delivered up to 95.03 ± 2.36 % of the total fucoidan concentration into the skin. In vivo investigations revealed that DMN-F effectively reduced wrinkles, improved skin elasticity, maintained moisture levels, and increased epidermal thickness. Histological images provided additional evidence of DMN-F's positive effects on these aging parameters. The results confirm that the DMN-F formulation effectively delivers fucoidan into the skin, allowing it to treat and mitigate signs of aging., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier B.V.)

The prevalence of stunting in Indonesian children under five years of age is about 20%. Chronic maternal malnutrition contributes to the risk of stunting by affecting global DNA methylation. In the present study, we aimed to evaluate the levels of 5-methyl-cytosine (5mC), as a surrogate marker of global DNA methylation, in buccal swabs and its potential association with risk of stunting and cognitive performance. The levels of 5mC were measured using the enzyme-linked immunosorbent assay. The Wechsler Preschool and Primary Scale of Intelligence was used to measure cognitive functions. Buccal swab DNA samples and anthropometric data were collected from a total of 231 children aged zero to five years. In this cross-sectional cohort, the prevalence of stunting was 37% in 138 children aged zero to two years and 30% in 93 children aged > two years. The univariable analysis revealed that the levels of 5mC in buccal swab DNA were significantly lower in severely stunted children (median, 2.84; interquartile range [IQR], 2.39-4.62; P -value, 0.0314) and in children of a younger age (median, 2.81; IQR 2.53-4.62, P- value, 0.0001) than in normal (median, 3.75; IQR, 2.80-4.74) and older children (median, 4.01, IQR, 3.39-4.87), respectively. We also found that the average cognitive scores tended to be low in boys and stunted children, although the differences were not statistically significant. Furthermore, levels of 5mC found in buccal and mouthwash DNA were not associated with cognitive scores.

Sildenafil citrate (SIL) as a first-line treatment for erectile dysfunction is currently reported to have poor solubility and bioavailability. Moreover, SIL undergoes first-pass metabolism when taken orally and its injection can lead to discomfort. In this study, we introduce a novel transdermal delivery system that integrates hydrogel-forming microneedles with the inclusion complex tablet reservoir. The hydrogel-forming microneedle was prepared from a mixture of polymers and crosslinkers through a crosslinking process. Importantly, the formulations showed high swelling capacity (>400 %) and exhibited adequate mechanical and penetration properties (needle height reduction < 10 %), penetrating up to five layers of Parafilm® M (assessed to reach the dermis layer). Furthermore, to improve the solubility of SIL in the reservoir, the SIL was pre-complexed with β-cyclodextrin. Molecular docking analysis showed that SIL was successfully encapsulated into the β-cyclodextrin cavity and was the most suitable conformation compared to other CD derivatives. Moreover, to maximize SIL delivery, sodium starch glycolate was also added to the reservoir formulation. As a proof of concept, in vivo studies demonstrated the effectiveness of this concept, resulting in a significant increase in AUC (area under the curve) compared to that obtained after administration of pure SIL oral suspension, inclusion complex, and Viagra® with relative bioavailability > 100 %. Therefore, the approach developed in this study could potentially increase the efficacy of SIL in treating erectile dysfunction by being non-invasive, safe, avoiding first-pass metabolism, and increasing drug bioavailability., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Current water warming and freshwater acidification undoubtedly affect the life of aquatic animals especially ammonotelic teleost by altering their physiological responses. The effect of temperature (28 °C vs 32 °C) and pH (7 vs. 5) on the metabolic compromising strategies of Hoven's carp ( Leptobarbus hoevenii ) was investigated in this study. Fishes were conditioned to (i) 28 °C + pH 7 (N 28°C ); (ii) 32 °C + pH 7 (N 32°C ); (iii) 28 °C + pH 5 (L 28°C ) and (iv) 32 °C + pH 5 (L 32°C ) for 20 days followed by osmorespiration assay. Results showed that feeding performance of Hoven's carp was significantly depressed when exposed to low pH conditions (L 28°C and L 32°C ). However, by exposed Hoven's carp to L 32°C induced high metabolic oxygen intake and ammonia excretion to about 2x-folds higher compared to the control group. As for energy mobilization, Hoven's carp mobilized liver and muscle protein under L 28°C condition. Whereas under high temperature in both pH, Hoven's carp had the tendency to reserve energy in both of liver and muscle. The findings of this study revealed that Hoven's carp is sensitive to lower water pH and high temperature, thereby they remodeled their physiological needs to cope with the environmental changes condition., Competing Interests: The authors declare that they have no conflict of interest., (© 2024 Published by Elsevier Ltd.)

A novel homozygous variant in KIFBP was identified in a consanguineous family with four sibs affected by Goldberg-Sphrintzen Syndrome (GOSHS). We report for the first time, early-adulthood-onset progressive ataxia, opthalmoparesis, and hypogonadotropic hypogonadism in GOSHS., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Background: Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues. Infantile-onset Pompe disease (IOPD) patients present within the first year of life with profound hypotonia and hypertrophic cardiomyopathy. Treatment with enzyme replacement therapy (ERT) has significantly improved survival for this otherwise lethal disorder. This study aims to describe the clinical and molecular spectrum of Malaysian IOPD patients, and to analyze their long term treatment outcomes., Methods: Seventeen patients diagnosed with IOPD between 2000 and 2020 were included in this retrospective cohort study. Clinical and biochemical data were collated and analyzed using descriptive statistics. GAA enzyme levels were performed on dried blood spots. Molecular analysis of the GAA gene was performed by polymerase chain reaction and Sanger sequencing. Structural modelling was used to predict the effect of the novel mutations on enzyme structure., Results: Our cohort had a median age of presentation of 3 months and median age of diagnosis of 6 months. Presenting features were hypertrophic cardiomyopathy (100%), respiratory insufficiency (94%), hypotonia (88%), failure to thrive (82%), feeding difficulties (76%), and hepatomegaly (76%). Fourteen different mutations in the GAA gene were identified, with three novel mutations, c.1552-14&#95;1552-1del, exons 2-3 deletion and exons 6-10 deletion. The most common mutation identified was c.1935C > A p.(D645E), with an allele frequency of 33%. Sixteen patients received ERT at the median age of 7 months. Overall survival was 29%. Mean age of death was 17.5 months. Our longest surviving patient has atypical IOPD and is currently 20 years old., Conclusions: This is the first study to analyze the genotype and phenotype of Malaysian IOPD patients, and has identified the c.1935C > A p.(D645E) as the most common mutation. The three novel mutations reported in this study expands the mutation spectrum for IOPD. Our low survival rate underscores the importance of early diagnosis and treatment in achieving better treatment outcomes., (© 2023. Institut National de la Santé et de la Recherche Médicale (INSERM).)

Objective: Acne vulgaris (AV) is a common problem with a relatively high incidence rate among Asian people. The potential antimicrobial and anti-inflammatory properties of banana peels have been demonstrated in previous studies but have not been studied in cases of AV. Therefore, this study was aimed at investigating the protective effects of banana ( Musa balbisiana ) peel extract (MBPE) against AV., Methods: Thirty rats were divided into five groups (n = 6 rats per group): an AV group, AV group treated with 0.15% MBPE, AV group administered 0.30% MBPE, AV group administered 0.60% MBPE, and AV group administered clindamycin (the standard drug treatment). We assessed nodule size, bacterial count, histopathology, and cytokine levels (IL-1α, IFN-γ, tumor necrosis factor (TNF)-α, and IL-8). Enzyme linked immunoassays were used to measure the cytokine levels. In addition, we performed molecular docking studies to determine the interactions between phytochemicals (trigonelline, vanillin, ferulic acid, isovanillic acid, rutin, and salsolinol) via the Toll-like receptor 2 (TLR2) and nuclear factor-kappa B (NF-κB) pathways., Results: All MBPE treatment groups, compared with the AV group, showed suppression of both bacterial growth and proinflammatory cytokine production, as well as resolved tissue inflammation. The nodule size was significantly suppressed in the groups receiving the two highest doses of MBPE, compared with the AV group. However, the pharmacological action of MBPE remained inferior to that of clindamycin. Docking studies demonstrated that rutin was the phytocompound with the most negative interaction energy with TLR2 or NF-κB., Conclusions: Our results indicated that MBPE has anti-inflammatory effects against AV, by suppressing nodule formation, inhibiting bacterial growth, and decreasing proinflammatory cytokine production., (© 2023 The Authors.)

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin. Diagnosis is based on the analysis of CSF or plasma metabolites, AADC activity in plasma and genetic testing for variants in the DDC gene. The exact prevalence of AADC deficiency, the number of patients, and the variant and genotype prevalence are not known. Here, we present the DDC variant (n = 143) and genotype (n = 151) prevalence of 348 patients with AADC deficiency, 121 of whom were previously not reported. In addition, we report 26 new DDC variants, classify them according to the ACMG/AMP/ACGS recommendations for pathogenicity and score them based on the predicted structural effect. The splice variant c.714+4A>T, with a founder effect in Taiwan and China, was the most common variant (allele frequency = 32.4%), and c.[714+4A>T];[714+4A>T] was the most common genotype (genotype frequency = 21.3%). Approximately 90% of genotypes had variants classified as pathogenic or likely pathogenic, while 7% had one VUS allele and 3% had two VUS alleles. Only one benign variant was reported. Homozygous and compound heterozygous genotypes were interpreted in terms of AADC protein and categorized as: i) devoid of full-length AADC, ii) bearing one type of AADC homodimeric variant or iii) producing an AADC protein population composed of two homodimeric and one heterodimeric variant. Based on structural features, a score was attributed for all homodimers, and a tentative prediction was advanced for the heterodimer. Almost all AADC protein variants were pathogenic or likely pathogenic., Competing Interests: Declaration of Competing Interest None., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

&lt;b&gt;Background and Objective:&lt;/b&gt; Biscuits are snacks that are widely circulated in the market but do not meet Indonesian National standards so they are harmful to consumer health. This study aims to determine the total plate count (TPC) value of bacteria and mold/yeast and determine the presence or absence of bacterial contamination of &lt;i&gt;Staphylococcus aureus &lt;/i&gt;and &lt;i&gt;Escherichia coli&lt;/i&gt; in biscuit products. &lt;b&gt;Materials and Methods:&lt;/b&gt; This study is descriptive in nature using three different sample types. Total plate count (TPC) value testing was carried out using the pour plate method. Meanwhile, to determine the presence or absence of &lt;i&gt;Staphylococcus aureus&lt;/i&gt; bacteria using MSA (mannitol salt agar) media with the spread plate technique. The &lt;i&gt;Escherichia coli&lt;/i&gt; test uses EMBA (eosin methylene blue agar) media with a streak plate technique. &lt;b&gt;Results:&lt;/b&gt; Three samples of biscuit formula obtained ALT of bacteria in sample A) 2.2×10&lt;sup&gt;7&lt;/sup&gt; colonies/g, sample B) 1.9×10&lt;sup&gt;7&lt;/sup&gt; colonies/g and sample C) 4.1×10&lt;sup&gt;7&lt;/sup&gt; colonies/g. Mold/khamir obtained in sample A) 7.7×10&lt;sup&gt;5&lt;/sup&gt; colonies/g, sample B) 5.1×10&lt;sup&gt;6&lt;/sup&gt; colonies/g and sample C) 1.1×10&lt;sup&gt;6&lt;/sup&gt; colonies/g. In the &lt;i&gt;Staphylococcus aureus&lt;/i&gt; bacteria test, the results were not overgrown with &lt;i&gt;Staphylococcus aureus&lt;/i&gt; bacteria and in the &lt;i&gt;Escherichia coli&lt;/i&gt; bacteria test, the results were easily purplish red in color. &lt;b&gt;Conclusion:&lt;/b&gt; It can be concluded that only formula C samples meet the requirements of the SNI quality standards. In the pathogenic microbial test, there was no growth of &lt;i&gt;Staphylococcus aureus&lt;/i&gt; and &lt;i&gt;Escherichia coli&lt;/i&gt; microbes in the three biscuit formula samples.

This study was aimed to assess internal and external factors related to youths' consumption behavior towards roasted chicken products. Qualitative interview was conducted with 30 selected respondents aged 15-20, 21-25 and 26 to 30 from a university and two high schools at Serdang, Selangor. An audio recorder was used to gather qualitative data over two months. A thematic content analysis was applied to identify the needed information, comprising of transcription, coding and theme development. Results disclosed that respondents in this study implied physiological attributes (delicious, tastiness, crispy texture, good flavour, brown colour, smoky aroma, own eating preference), personality attributes (availability, good hygiene, health concern), reference groups (friends, family members) and culture (family lifestyle, early life feeding behaviour) as significant factors that drive their purchase of roasted chicken products. This study's results also disclosed that the most prioritized factors were brown colour, health concern, friends and family lifestyle. The results of this study further identify physiological and personality attributes as internal factors, and reference groups and culture as external factors. Hence, this study concluded that internal factors (physiological, personality) and external factors (reference groups, culture) as essential factors in influencing youths' purchase of roasted chicken products. Thus, this study's outcome is beneficial for the vendors to boost their sales as well as promoting better ways of selecting foods to reduce the risk of non-communicable diseases amongst the youth in Malaysia., Competing Interests: The authors declare no conflict of interest., (© 2023 The Authors. Published by Elsevier Ltd.)

Congenital myasthenic syndrome (CMS) is an uncommon inherited neuromuscular junction disease. The clinical presentation of this disorder is diverse. Typically patients with this disorder present with early-onset swallowing difficulty and apnea in infancy, fluctuating ocular palsies and fatigable proximal muscle weakness during childhood, and late-onset form involving progressive weakness in adulthood. Difficulty in performing neurophysiology studies in children and the absence of a pathognomonic investigation marker increase the challenges in diagnosis of this disorder. The emergence of next-generation sequencing technology has circumvented these challenges somewhat, and has contributed to the discovery of novel mutations. We present here diagnostic odyssey of three CMS patients from two unrelated Kadazandusun kinships and their follow-up treatment. A rare homozygous mutation c.916G > C (p.Val306Leu) in CHAT gene was found in two siblings born of a consanguineous marriage. Third patient had compound heterozygous mutations c.406G > A (p.Val136Met) and c.916G > C (p.Val306Leu) in CHAT gene. We postulate that p.Val306Leu may be a founder mutation in the Kadazandusuns, an indigenous ethnic minority of Borneo Island., Competing Interests: Conflict of Interest None declared., (Thieme. All rights reserved.)

Background: Glycogen storage disease type 1a (GSD1a) is a rare autosomal recessive metabolic disorder characterized by hypoglycaemia, growth retardation, lactic acidosis, hepatomegaly, hyperlipidemia, and nephromegaly. GSD1a is caused by a mutation in the G6PC gene encoding glucose-6-phosphatase (G6Pase); an enzyme that catalyses the hydrolysis of glucose-6-phosphate (G6P) to phosphate and glucose., Objective: To elaborate on the clinical findings, biochemical data, molecular genetic analysis, and short-term prognosis of 13 GSD1a patients in Malaysia., Methods: The information about 13 clinically classified GSD1a patients was retrospectively studied. The G6PC mutation analysis was performed by PCR-DNA sequencing., Results: Patients were presented with hepatomegaly (92%), hypoglycaemia (38%), poor weight gain (23%), and short stature (15%). Mutation analysis revealed nine heterozygous mutations; eight previously reported mutations (c.155 A > T, c.209 G > A, c.226 A > T, c.248 G > A, c.648 G > T, c.706 T > A, c.1022 T > A, c.262delG) and a novel mutation (c.325 T > C). The most common mutation found in Malaysian patients was c.648 G > T in ten patients (77%) of mostly Malay ethnicity, followed by c.248 G > A in 4 patients of Chinese ethnicity (30%). A novel missense mutation (c.325 T > C) was predicted to be disease-causing by various in silico software., Conclusions: The establishment of G6PC molecular genetic testing will enable the detection of presymptomatic patients, assisting in genetic counselling while avoiding the invasive methods of liver biopsy., Competing Interests: All authors declare that there are no conflicts of interest., (Copyright © 2022 Siti Aishah Abdul Wahab et al.)