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Copyright of Revista Ciencias de la Salud is the property of Colegio Mayor de Nuestra Senora del Rosario and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The ketogenic diet was an amazing approach to treating epilepsy from its beginning. The body undergoes a change in obtaining energy, going from depending on carbohydrates to depending on fats, and then a whole series of biochemical routes are launched that, independently but also complementary, give rise to a set of effects that benefit the patient. This search for its mechanism of action, of devising how to improve compliance and take advantage of it for other diseases has marked its trajectory. This article briefly reviews these aspects, emphasizing the importance of continuing to carry out basic and clinical research so that this treatment can be applied with solid scientific bases. [ABSTRACT FROM AUTHOR]

Copyright of Acta Neurológica Colombiana is the property of Colombian Association of Neurology / Asociacion Colombiana de Neurologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: dysmetabolic acrodermatitis can occur in patients with inborn errors of metabolism, such as maple syrup urine disease (MSUD). Case description: this is a male patient who, at eight days of age, presented hypotonia, lethargy, anorexia, apneas and cyanosis. Due to the neurological manifestations, an inborn error of metabolism is suspected, requesting metabolic screening. Due to elevated plasma levels of leucine, isoleucine and valine, a diagnosis of MSUD was established, starting a diet free of these amino acids. At five months of age, he was identified with disseminated dermatosis: confluent erythematosquamous plaques, poorly delimited, considered as dysmetabolic acrodermatitis; after seven days of adjusting therapy, improvement of the dermatological lesions was observed. He remained stable until 2 years of age, when he was readmitted for dermatosis exacerbation and metabolic acidosis; however, the patient died despite intensive care management. Conclusions: in dysmetabolic acrodermatitis, skin lesions can be a marker of decompensation of a metabolic disease. Early identification of this complication can help offer timely treatment. [ABSTRACT FROM AUTHOR]

BACKGROUND: Glutaric aciduria type I (AG-I) is an inborn error of metabolism caused by variants in GCDH, this affects the function of the enzyme glutaryl-CoA dehydrogenase and produces accumulation of neurotoxic metabolites, patients with this disfunction are characterized with striatal lesions and movement disorders (dystonia, choreoathetosis). CASE REPORT: The patient is a 3-year-old Mexican male with a history of an encephalopathic crisis at 10 months old, after this episode he suffered development regression, hypotonia and movement disorder, he has also other pathological antecedents: laryngomalacia, recurrent hordeolum, chronic productive cough, diarrhea-constipation, generalized hyperhidrosis and multiple hospitalizations for acute respiratory infections. MRI reported expansion in the frontotemporal subarachnoid space and the Sylvian fissures, also bilateral atrophy, T2/FLAIR hyperintensity and restricted diffusion in the basal ganglia; organic acids analysis showed increased glutaric acid levels; GCDH sequencing reported two pathogenic variants: p.Arg402Trp and p.Thr429Met. CONCLUSIONS: This is a report of a late diagnosed AG-I case with two pathogenic variants in GCDH, previously unreported in the Mexican population. Early AG-I treatment radically changes the prognosis; however, it depends on screening methods for diagnosis that are not widely available in some populations. [ABSTRACT FROM AUTHOR]

Copyright of Actualización en Nutrición is the property of Sociedad Argentina de Nutricion and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The clinical case of a patient with Ceroid Neuronal Lipofuscinosis type 2 (CLN2), a genetic condition produced by mutations in the TPP1 gene, is presented. CLN2 is a Lysosomal Deposition Disease (LSD), a group of genetic disorders that are part of the Inborn Errors of Metabolism, in which a substrate accumulates that cannot be degraded at the level of the lysosomes due to a deficiency in an enzyme. In the case of CLN2, this enzymatic deficit causes an accelerated neurological deterioration with refractory epilepsy, being the first case described in the Republic of Panama to date. This condition is a rare disease, and this report shows the importance of the need to consider genetic diagnostic panels when a difficult-to-manage epilepsy occurs in infants. [ABSTRACT FROM AUTHOR]

Copyright of Revista de Ciencias Médicas de Pinar del Río is the property of Editorial Ciencias Medicas and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Acute hyperammonemia (HAA) is a medical emergency, that cause neurological damage, complications or even death. HAA occurs most frequently in patients with inborn errors of metabolism (IEM), especially in events of metabolic decompensation, and require intensive care. The IEM that mainly cause HAA include; urea cycle defects, organic acidemias, fatty acid oxidation disorders and carnitine cycle defects. In HAA, the primary aim is to preserve life and the integrity of the central nervous system, decreasing blood ammonia levels to normal, with urgent medical treatment, individualized life support and nutrition. Knowledge of the available drugs, the ammonium removal methods, as well as the energy and protein requirements, supplements, cofactors and vitamins; is very important for individualize the medical and nutritional treatment according to their biochemical, clinical profiles and underlying disease. The objective of this work is to present current concepts regarding the treatment of HAA in patients with inborn errors of metabolism. [ABSTRACT FROM AUTHOR]

Introduction: early detection of patients with inborn errors of metabolism (IEM) can improve their prognosis. Patients' signs and symptoms are helpful in identifying IEM. The objective of this study was to evaluate the diagnostic capacity of hypotonia and hyperammonemia as indicators of IEM in newborns. Material and methods: observational and retrospective study. A total of 74 newborns treated in the Neonatology area of the Hospital Infantil de Especialidades del Estado de Chihuahua were included. The patients had records of the characteristics of newborn muscle tone, determination of serum ammonia levels and the result of the expanded neonatal screening for metabolic disorders. The diagnostic capacity of the clinical data was based on sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV). Results: six newborns with different IEM were detected; thus, the prevalence was 8.1%. By IEM group, organic acidemias were the most frequent. Hyperammonemia as a diagnostic marker IEM resulted in a sensitivity of 100%, specificity of 91.2%, PPV of 50% and NPV of 100%; while the results for hypotonia were 100%, 52.9%, 15.7% and 100%, respectively. Conclusions: hypotonia and particularly hyperammonemia can be considered useful clinical findings for early detection of IEM. [ABSTRACT FROM AUTHOR]

Introduction: Galactosemia is an inborn error of galactose metabolism, caused by the deficiency of some of the enzymes GALT, GALK1, GALE and GALM. In this study, six cases with galactosemia and their clinical, biochemical and molecular characterization are presented. Material and methods: The clinical data of six patients with galactosemia are presented, as well as the nutritional treatment and follow-up are described. The diagnosis was made with an expanded neonatal screen. In patients with a total galactose measurement > 10 mg / dL, the Beutler test was performed. Molecular analysis for the GALT, GALE and GALK genes was performed by Sanger sequencing. Results: Three patients presented clinical data at the time of diagnosis, two with acute neonatal symptoms, the third with chronic symptomatology, reaching diagnosis at school age. The other three were asymptomatic. All six patients were offered nutritional treatment based on the elimination of galactose. In four patients, biallelic pathogenic variants were identified in GALK1 and one in GALT. In the sixth patient, a homozygous intronic deletion was detected in GALK1, classified as SNP. Conclusions: Galactosemia has a variable clinical spectrum, therefore, its diagnosis requires both its detection by metabolic screening and the identification of a compatible clinical picture. As part of the approach, the genetic aspect is essential in order to offer individualized genetic counseling. [ABSTRACT FROM AUTHOR]

BACKGROUND: Inborn errors of metabolism (IEM) cause a significant morbidity and mortality suffered by pediatric hospital burden. OBJECTIVE: To analyze the quantity, type, cause, age at occurrence and evolution of the hospitalizations of patients with inborn errors of intermediate metabolism, in a third level pediatric care center. MATERIAL AND METHODS: Retrospective analysis of the hospitalizations of a case series with IEM. Admission and discharge causes, clinical, demographic data, time and date hospitalizations and service that provided care were collected. RESULTS: In a 36 months period, 100 hospitalizations (88 urgent and 12 elective) occurred in 39 patients. Metabolic decompensations associated with gastrointestinal symptoms, infectious diseases and respiratory manifestations and propionate defects were the main causes of urgent hospitalizations (47.7%). 3 patients died (tyrosinemia, glutaric acidemia II and maple syrup urine disease). The main cause of elective hospitalization was for gastrostomy. Only 20.6% of patients had newborn screening for IEM. In our reference center, the patients with IEM contribute to 2.6% of emergency hospitalizations and 0.42% of total hospital admissions, with a mortality of 8.8%. We documented 2.6 hospitalizations of IEM patients per month, being most of them emergencies due to metabolic decompensation CONCLUSIONS: Pediatricians must be trained to care for these patients and institutions must have human and economic resources to care for them. [ABSTRACT FROM AUTHOR]

Copyright of Revista de la Academia Colombiana de Ciencias Exactas, Físicas y Naturales is the property of Academia Colombiana de Ciencias Exactas, Fisicas y Naturales and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Primary hyperoxaluria type 2 is a rare disease characterized by over production of oxalate due to a deficiency of an intra hepatic enzyme leading to renal lithiasis, nephrocalcinosis and chronic kidney damage. We report the case of 17-year-old male patients with history of urinary tract infections and renal lithiasis since the age of 6 years. The patient developed end-stage kidney disease at the age of 11 years receiving chronic ambulatory peritoneal dialysis. He developed back pain and polyarthralgia of the ankles, knees, shoulders and progressive deformity of the hands. The magnetic resonance of the spine revealed flattening of D9-D9. Bone biopsy of the affected area showed presence of calcium oxalate. A genetic study confirmed the diagnosis of primary hyperoxaluria type 2. This entity should be suspected in children with renal stones at an early age, this may be the first case in Peru. [ABSTRACT FROM AUTHOR]

Objective: To update the reader on inherited disorders of pyrimidine and purine metabolism related to intellectual disability. Materials and methods: literature available from the past 60 years from BBCs-LILACS, PubMed, IB-PsycINFO, IB-FSS, IB-SciELO, Scopus, and Science Direct databases was analyzed, and 51 references were selected based on the quality of the evidence presented. Results: Relevant information related to the objectives proposed in this review was obtained, and therefore, it can be classified into two sections specifically: alterations in the metabolism of pyrimidines associated with mental retardation, alterations in the metabolism of purines related to mental retardation. Conclusion: Hereditary disorders of purines and pyrimidine metabolism are a growing group of diseases. Health personnel must become familiar to face the need for a specific clinical and laboratory approach. It is necessary to look for the possible relationship of this type of disease in patients with mental retardation, looking to offer genetic counseling that benefits the families of patients who suffer. [ABSTRACT FROM AUTHOR]

Inborn errors of metabolism are a set of diseases that converge in the presence of mutations expressed in enzymes and transport proteins, among others, that generate a blockage in metabolic routes, triggering biochemical alterations. glutaric aciduria type II is a disturbance in the oxidation of fatty and amino acids, comprising disorders that may vary in complexity from a severe neonatal presentation to a mild illness in childhood or adulthood with episodic metabolic alterations, muscle weakness, and respiratory failure. clinical case: A 32-week-old preterm newborn with respiratory distress, whom initially presented a decompensated metabolic acidosis, which subsequently compensates, and maintains a normal anion gap throughout his hospitalization. A high clinical suspicion is important to reach diagnosis and establish immediate treatment. [ABSTRACT FROM AUTHOR]

Inborn errors of metabolism represent an emerging public health problem that requires timely strategies and ongoing efforts. Currently, the newborn screening is the only method for early detection of this type of diseases, since it allows to identify affected newborns before irreversible damage appears. In the last 6 years, the screening panel at the Ministry of Health in México has increased from 1 to 6 diseases. The financing of the program has been fundamental for the development of the newborn screening program since it has guaranteed it as an integral process, and gradually has increased the assigned resources to this public policy. The hiring of specialized and integral services has allowed a substantial improvement on the results of the newborn screening program, streamlined the delivery of results, guaranteed access to confirmatory tests of 100% of suspected cases in a shorter time, all of this achieved an impact in the reduction of the time of the treatment beginning and therefore in the damage limitation and disability prevention. [ABSTRACT FROM AUTHOR]

Copyright of Revista de Salud Pública is the property of Universidad Nacional de Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: infantile nephropathic cystinosis (INC) is an autosomal recessive disorder that causes defects in cystine transport with subsequent accumulation in almost all body tissues, especially kidneys. There are few studies regarding the nutritional status assessment of patients with INC. It has been reported that patients with INC showed increased urinary losses of carnitine, resulting in plasma and muscle carnitine deficiency also increased metabolic requirements of carnitine in this patients have also been proposed, but to date carnitine supplementation is controversial.Objective: the aim of this study was to compare carnitine blood concentrations with nutritional status assessed by three anthropometric parameters: body mass index, mid-upper arm circumference and tricipital skin fold in patients with INC.Material and Methods: anthropometric assessment of 10 patients with INC which included measurement of weight, height, mid-upper arm circumference and tricipital skin fold thickness. Free carnitine (C0) was measured by tandem mass spectrometry in fasting blood samples.Results: a total of 10 patients with INC were analyzed, 5 with and 5 without renal graft. According to the body mass index, 3/10 presented malnutrition. Muscular mass was found low in 8/10 patients (3 without renal graft and all the transplanted) the mid-upper arm circumference showed correlation with C0 blood concentrations (r2 = 0.353); non transplanted patients had C0 levels significantly lower than the transplanted ones (Chi2 = 0.0027).Conclusion: in this study we found that 70% of patients had low C0 blood levels that had a correlation with depleted lean body mass. It is recommendable to evaluate the nutritional status of these patients as part of their routine medical evaluation. [ABSTRACT FROM AUTHOR]

Maple syrup urine disease (MSUD) is a hereditary disorder of branched chain amino/keto acid metabolism, caused by a decreased activity of the branched-chain alpha- ketoacid dehydrogenase complex (BCKAD), which leads to abnormal elevated plasma concentrations of branched-chain amino acids (BCAAs) clinically manifested as a heavy burden for Central Nervous system. The toxic accumulation of substrates promotes the development of a severe and rapidly progressive neonatal encephalopathy if treatment is not immediately given. This disorder has a specific medical management in acute phase in order to minimize mortality and morbidity. For all those reasons, it is important to include the MSUD as a possible diagnosis in a encephalopathic newborn. We present a Colombian newborn with classical MSUD with fatal outcome as an example of metabolic emergency and a differential diagnosis in the encephalopathic newborn. [ABSTRACT FROM AUTHOR]

Introduction: the nutrition management of patients with inborn errors of metabolism (IEM) requires the permanent use of elemental medical formulas whose organoleptic characteristics sometimes impede oral acceptance. In addition, these patients may have gastrointestinal disorders and require constant use of drugs,that often complicate treatment adherence, thereby committing their nutritional status and disease control. Gastrostomy is an alternative to facilitate feeding and treatment, but its use is controversial. Objective: to compare nutrition status and length of hospitalizations before and after gastrostomy surgery in a group of IEM patients. Methods: retrospective analysis of anthropometric data, number of hospitalizations due to metabolic decompensation and length in pediatric patients with IEM before and after gastrostomy. Results: 16 children were analyzed, 40% with propionate disorders, 25% with abnormal urea cycle and 35% other IEM. After gastrostomy, the number of eutrophic patients increased from 6-56%, and malnutrition decreased from 94 to 44%. After gastrostomy inpatient hospital days significantly decrease from 425 to 131 (p=0.011), admission numbers pre-gastrostomy decreased from 33 to 17, however this difference was not statistically significant. Conclusion: in this sample, gastrostomy improved nutritional status in 56% of EIM patients and significantly reduced hospital days caused by metabolic decompensation. [ABSTRACT FROM AUTHOR]

Introduction: Classic phenylketonuria (PKU) is a genetic encephalopathy characterized by impairment of phenylalanine (Phe) metabolism, leading to elevation of blood Phe to toxic levels. Clinical manifestations include irritability, sleep disorders, apathy, seizures, developmental delay, autistic behavior, aggressiveness; mental retardation is the most severe manifestation of the disease. Objective: To describe the findings of brain nuclear magnetic resonance (NMR) and to measure the apparent diffusion coefficient (ADC) of Mexican PKU patients diagnosed by their clinical manifestations in the National Institute of Pediatrics (INP). Material and methods: Retrospective analysis of brain images obtained by NMR from PKU patients. A Signa Excite magnet of 1.5 Tesla with an 8-channel phased array cerebral antenna was used. ADC was measured on the Advantage Workstation 4.2p. Results: Abnormalities in the white and gray matter were observed in all patients; bilateral changes were present in the frontal, temporal, occipital, subcortical and periventricular white matter. ADC was diminished in the peritrigonal and occipital white matter; as well as in the corpus callosum, basal ganglia and cerebellum. One patient had two arachnoid cysts. Conclusion: All PKU patients exhibited the characteristic NMR abnormalities. The mechanisms responsible for brain damage that occur in PKU patients are poorly understood and require further research. [ABSTRACT FROM AUTHOR]

In Mexico the birth prevalence of the metabolic diseases detected by expanded newborn screening is poorly known and there is little information about its performance indicators.Objective. Describe the birth prevalence of the metabolic defects detected by the expanded newborn screening program implemented in the Mexican Navy (Secretaría de Marina Armada de México, SEMAR), and to make known some of its performance indicators. Materials and Methods. A blood sample of 5 205 newborns from 18 Mexican states were taken. The age at blood sampling, the proportion of samples taken between the 3rd and the 5th days of life, and the time of results delivery were analyzed. The number and type of detected metabolic diseases, as well as the maternal age and body mass index, the type of birth, the gestational age and weight of the newborns were analized. Results. The age at blood sampling was 4.7 days and 81.15 percent of the samples were obtained in optimal time. Two cases of congenital hypothyroidism (3.8/10 000 newborns), one of adrenal congenital hyperplasia (1.9/10 000 newborns) and five cases of deficiency of glucose- 6-phosphate dehydrogenase (9.6/10 000 newborns) were detected. The 85.6% of mothers had pregnancies at an optimal reproductive age (20-35 years), but overweight and obesity occurred in 44.7% of them. Conclusions. In this analyzed population, the birth prevalence of metabolic defects was 15.37/10 000 newborns. The expanded newborn screening program allowed its identification and timely treatment, with the aim of preventing disability and death. [ABSTRACT FROM AUTHOR]

The article titled "INBORN ERRORS OF METABOLISM" presents the results of a study on the remote monitoring of patients with amino acid metabolism disorders during the COVID-19 pandemic. A monitoring model was designed through telephone and/or online clinical evaluations, using filter paper samples to prevent metabolic decompensations. Fourteen patients participated in the study and none required hospitalization due to metabolic decompensation related to the disease or COVID-19. It is concluded that remote monitoring has been useful in minimizing the need for hospital visits and metabolic decompensations. In another study on post-stroke dysphagia, the impact of extensional viscosity and shear viscosity on the effectiveness of thickening products was analyzed. It was found that increasing shear viscosity improves swallowing safety in these patients. [Extracted from the article]

Hyperammonemia (HA) is a metabolic emergency, and when not diagnosed and treated in a timely manner leads to severe neurological damage and/ or death. HA may have multiple origins, but the EIM are one of the causes that should always be suspected. The objective of this work is to make a clinical description of the causes of HA in a sample of patients from the National Institute of Pediatrics (INP), to know the proportion of patients with HA in which could confirm the presence of an inborn error of metabolism (IEM). We found 72 patients with HA in the past 10 years, of whom 11 were patients already known to have an IEM and 61 with unknown cause; Of the latter, 46% of patients underwent metabolic studies (amino acids quantification, organic acids analysis and orotic acid quantification) and in 14 cases (30%) an IEM was diagnosed. The clinical symptoms most frequently observed were neurological (seizures, drowsiness, lethargy, irritability, developmental delay, and hypotonia stupor, etc.), followed by digestive disturbances such as vomiting and refusal to eat. Urea cycle disorders, aminoacidopathies and organic acidemias were diagnosed, so the management and treatment of these should be known by the pediatricians, especially those dedicated to emergencies. [ABSTRACT FROM AUTHOR]

Hunter syndrome or mucopolysaccharidosis Type II is an inborn error of mucopolyssacharide metabolism, caused by deficiency of the lysosomal enzyme iduronatesulfatase, which determines serious clinical manifestations, multisystem damage and premature death. Due to its hereditary character, patients with this condition should be advised; therefore, a proposal of genetic counseling directed to couples and families at risk of having children with this condition was made, for which the basic components of this process such as diagnosis, risk estimation, communication and support or foundation were taken into account; also, the established ethical principles were respected. Likewise, a comprehensive and updated review on the disease was conducted and a fact sheet was developed with those aspects to be considered, in order to achieve a proper understanding by couples and families affected. [ABSTRACT FROM AUTHOR]

In patient with inborn errors of metabolism (IEM), the presence of characteristic findings in ophthalmic assessment are important for the diagnosis. The presence of cataracts, cherry-red spot, corneal opacities, corneal crystals, lens dislocation, gyrate atrophy, etc., are some of the ocular abnormalities present in certain IEM. The role of the ophthalmologist in the evaluation of patients with IEM is essential. We describe the most frequent ocular findings in patients with different IEM, which are a diagnostic aid for ophthalmologists and pediatricians. [ABSTRACT FROM AUTHOR]

Copyright of Acta Pediátrica Española is the property of Ediciones Mayo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Inborn errors of metabolism (IEM) describe a set of genetic diseases that are caused, usually, by defects in a specific gene and autosomal recessive inheritance. The EIM can be classified according to its pathophysiology and impaired function. The mainstay of treatment in these EIM Nutrition, is the restriction of nourishment that promotes the accumulation of toxic metabolite. Dietary restriction is not always as successful as expected so alternatives have been developed for the removal of toxic metabolites. [ABSTRACT FROM AUTHOR]

Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Phenylketonuria (PKU) is an autosomic recessive inborn errors of metabolism. It is caused y the deficiency of phenylalanine hydroxylase, an enzyme encoded by the PAH gene in 12q22. This gene has a wide mutation spectrum and several different genotypes have been identified. There are many experimental strategies that allow molecular diagnosis of PAH in order to identify causal mutations in patients with phenylektonuria. The identification of the PAH genotype in these patients allows genetic counseling, genotype-phenotype correlation and for some cases treatment adjustment. There are few studies concerning the mutation spectrum of PAH in Mexican patients. Currently, a study to identify the genotypes of these patients is being done. Only preliminary results are presented, nevertheless results are expected to clarify the mutation spectrum, enable the identification of possible genotype-phenotype correlations and elucidate the ancestral origin of the mutations. [ABSTRACT FROM AUTHOR]

Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life. While this treatment has proven effective in preventing mental retardation, eliminating certain foods from the diet entails the risk of nutritional deficiencies. For these reasons, new non-nutritional therapeutic strategies have been developed. One is the administration of sapropterin dihydrochloride, the synthetic form of tetrahydrobiopterin (BH4), which is the natural cofactor of phenylalanine hydroxylase, whose purpose is to reduce blood phenylalanine levels. We studied 6 patients with confirmed diagnosis of hyperphenylalaninemia or phenylketonuria. Sapropterin dihydrochloride was administered for 28 days and the intake of phenylalanine was calculated in each patient. To evaluate the response to sapropterin phenylalanine blood levels were measured at zero, eight and 24 hours and on days seven, 14, 21 and 28. The 24-hours recall was used to establish the intake of phenylalanine before and during the study. A positive response was determined as a reduction of phenylalanine blood levels ≥30%. Four of the six patients responded positively to sapropterin dihydrochloride. The aim of this paper is to present the experience with sapropterin dihydrochloride in a group of Mexican patients with hyperphenylalaninemia. [ABSTRACT FROM AUTHOR]

The inborn errors of metabolism (IEM) are considered essentially as pediatric diseases, but nowadays due to medicine advancement, the cohorts of these pediatric patients are surviving beyond childhood and are reaching adolescence and adulthood. The transition from the clinical pediatric care to adult care implies new challenges for internist. The objective of these paper is to update the knowledge of internist in this field with some of the clinical features of Phenylketonuria (PKU), one of the most frequent IEM of amino acids, highlighting its main complications in the adult patient an some recommendation for the best clinical care. [ABSTRACT FROM AUTHOR]

Objective: to compare two laboratory diagnosis techniques for carnitine acylcarnitine translocase deficiency , a rare inherited autosomal recessive disorder in fatty acid oxidation. Materials and methods: fibroblasts of patients and controls were incubated with tritiated substrates and deuterated substrates. Results: a severe depression for oxidizing the tritiated substrates was observed for the fibroblasts of patients with this disease; however it was not possible to establish a characteristic profile for the diagnosis of the disease using deuterated substrates. Conclusion: the incubation of fibroblasts using tritiated substrates constitutes a good tool for laboratory diagnosis of patients suffering carnitine-acylcarnitine translocase deficiency, in contrast, incubation with deuterated substrates does not. [ABSTRACT FROM AUTHOR]

Copyright of Revista de la Facultad de Odontología. Universidad Nacional de Cuyo is the property of Universidad Nacional de Cuyo, Facultad de Odontologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Tandem mass spectrometry (MS/MS) has made it possible to expand neonatal screening programs in different countries. This technology permits multiple and rapid diagnosis of diverse inborn errors of metabolism. However, its use in different programs around the world currently varies widely. There are different criteria for determining whether to include a specific disease in such programs, with some cases employing a more restrictive approach than others, based on the traditional screening principles enunciated by Wilson and Jungner, which will have to be reevaluated in light of this new technology. This article presents an update on the use of MS/MS in different regions of the world in terms of the diseases screened for, and the criteria for including new health problems in neonatal screening programs. [ABSTRACT FROM AUTHOR]

Recent advances in technology have brought about a revolution in the manner in which biological systems are visualized and queried. Advances in mass spectrometry (MS) have made possible the analysis of cellular proteins and metabolites (proteome and metabolome respectively) on a scale previously unimaginable. The metabolome is defined as the quantitative collection of small molecular weight compounds (metabolites) present in cells, tissues or organisms which are the final downstream products of metabolic reactions. Quantitative and qualitative measurements of metabolites provide a broad view of the biochemical status of an organism. MS is an analytical technique which allows separation, identification and simultaneous quantification of several metabolites, in complex biological matrices, in a very short period of time. Initially, it was created for research purposes and at the present time their accessibility has opened the path for the development of various applications such as analysis of several body compounds, the environment, drugs, food, toxicology and forensics. Screening of the neonates is the most common application of MS; its fast expansion has set standards for new applications in the metabolomic area and represents a model for future applications such as screening for different diseases of newborns, pediatric and adult patients. The objective of the present work is to explain the technical basis of the MS, to mention some of its clinical applications which have converted it into the main tool for the development of metabolomics and to approach different pediatric problems. [ABSTRACT FROM AUTHOR]

Copyright of Revista de la Academia Colombiana de Ciencias Exactas, Físicas y Naturales is the property of Academia Colombiana de Ciencias Exactas, Fisicas y Naturales and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Inborn errors of metabolism (IEM) also known as hereditary metabolic diseases are a heterogeneous group of congenital diseases. At the present time an important number of them can be detected early in life by means of newborn screening. In Mexico, the IEM have been poorly studied, their incidence is unknown. The objective of the present paper is to compile the general incidence of some congenital diseases, IEM and endocrinopathies, susceptible to be detected with newborn screening. Literature review of the PubMed, Artemisa and MediciLatina data bases. We obtained information on the incidence of 57 diseases. The list is headed by endocrine defects, the most common of which is congenital hypothyroidism, whose reported incidence is 1:2,000 newborns (NB). Cystic fibrosis is the most common IEM, with an incidence of 1:3,721 NB, followed by sickle cell anemia, which incidence varies from 1:3,721 to 1:5,000 NB. We found that the incidence of these diseases has important variations among the different populations and countries. It is necessary to study the frequency of these detectable congenital diseases in our country, to have our own epidemiological panorama, which will help to decide the best choice of newborn screening panels. [ABSTRACT FROM AUTHOR]

Objective. The congenital inborn errors of metabolism (IEM) were identificables diseases for Garrod in 1908. Consanguinity was an importan issue if inheritance background was observed. At the beginning, albinism, cistinuria and porfiria were estudied. Cases reported. 2 370 metabolic studies were performed, 102 clinical cases were associated to diferent inborn errors of metabolism. Some of the clinical symptoms were polymalformed muscle esqueletal and skull and dental dismorfies were presented. Those patientes Conclusions. Actually, the IEM are defined as monogenic inherited diseases or mendelians, due to a metabolic error for a protein or enzime absence. It might be incompatible with the patient life and some times if the patient lives it will modify its quality of life, with craniofacial and dental malformations, as it can be seen in patients with mucopolysaccharidosis. [ABSTRACT FROM AUTHOR]

Objective: this is a detailed review of primary amenorrhea using Mashchak CA et al. classification according to the presence or absence of breast development and the presence or absence of uterus as being the most useful approach for managing patients suffering from this problem. Method: Medline and Ovid databases were searched for papers published in English using the following keywords: amenorrhea, primary amenorrhea, menstrual disorder, Turner syndrome, Kallmann syndrome, Prader-Willi syndrome, hypogonadotropic hypogonadism. This information was classified to support this review by making summaries for analysis. Results: primary amenorrhea can be caused by many alterations affecting the Mullerian structures, gonads, pituitary gland, hypothalamus, thyroid, adrenals or hormonal dysfunction; such anomalies may be congenital due to genetic or chromosomal defects or acquired. It is thus important that this problem is specifically diagnosed to enable a suitable therapeutic approach to be adopted for minimising the consequences of this disease. Conclusions: many diseases cause this problem, so diagnosing and treating patients suffering from primary amenorrhea must be individualised; however, some general questions needing specific answers are raised by all patients or their families. These questions are related to menstruation and spontaneous menstrual cycles, subsequent fertility, sexuality and the possibility of coitus with satisfactory vaginal penetration. [ABSTRACT FROM AUTHOR]

Newborn was referred with diagnosis of neonatal epilepsy. Medical team could suspect and confirm D-bifunctional peroxisomal enzymatic deficiency diagnosis. It was made by family antecedents, severe neonatal hypotonia, uncontrolled neonatal seizures, craniofacial dysmorphic features, psychomotor retardation, neuronal migration defect and a positive peroxisomal panel. The full study in skin fibroblasts involved enzyme analysis, complementation studies and DNA analysis. The accumulation of very long chain fatty acids, partial deficiency in phytanic acid oxidation, and abnormal morphology of peroxisomes was consistent with a defect in peroxisomal fatty acid oxidation, involving D-bifunctional protein. It is very important to make a diagnosis of this innate error of metabolism in order to give preconceptional genetic counseling, to identify recurrence risk and to perform mutation analysis for the D-bifunctional protein gene, and to offer the prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Objective. To initiate a statewide expanded metabolic screening program in neonates with the purpose of identifying the most common inborn errors of metabolism. Material and Methods. From March 2002 through February 2004, a blood sample was obtained between 24 and 48 hours after delivery from every consecutive child born in public hospitals in Nuevo León. It was spotted on filter paper and analyzed by tandem mass spectrometry for expanded metabolic screening. Results. A total of 42 264 samples were analyzed. Were obtained seven positive results, one for each disorder: homocystinuria, hyperphenylalaninemia, citrulinemia, transient tyrosinemia, 3-methylcrotonyl CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl CoA deficiency, and classic galactosemia. Conclusions. The estimated incidence of inborn errors of metabolism is 1:5 000, with a false positive rate of 0.22%. The program permitted the identification of metabolic disorders in the newborn, allowing an early intervention and prevention of life-threatening events and permanent neurological damage. [ABSTRACT FROM AUTHOR]

Introduction: This work offers a theoretical and updated review about methylmalonic and propionic acidemias, directed not only to specialists on this topic, but also to neurologists interested in the knowledge of inborn errors of metabolism. Sources of inform ation: Updated articles and books related to the theme. Internet consultation. Results: Methylmalonic and propionic acidemias are organic acidurias of autosomal recessive inheritance. Methylmalonic acidemia is due to metilmalonil-CoA mutase enzyme deficit or several defects in cofactor system biosynthesis, while propionic acidemia is due to propionil-C0A carboxilase enzyme deficit. Owing to organic acid and ammonium accumulation, these patients present several neurological symptoms that may produce coma and death. Fundamentally, the diagnosis of this disorder consists in the measurement of different metabolites in blood and urine and enzyme activity analysis. Treatment consists of a low-protein diet, a specialized formula that contains no precursor aminoacids and supplements of carnitine. Conclusions: Several health areas and specially neuropediatricians have relatively little experience in dealing with it, because this disorder is rare. A closer work between clinicians and laboratory for early diagnosis, prompt referral to a specialized center and a better attention to the health of our pediatric population are vital. [ABSTRACT FROM AUTHOR]

Background: Gaucher disease is the most prevalent metabolic storage disorder. It was first described in 1882, in a 32 year old lady with chronic progressive hepatosplenomegaly by Dr. Ernest Philippe Gaucher. In 1934 glucocerebroside was identified as the material stored in the spleen of some more patients. In 1965 Brady found the defect due to the deficiency of the lysosomal enzyme glucocerebrosidase that normally helps to break down lipid glucocerebroside, a membrane component of leukocytes and erythrocytes. In Gaucher disease, this glucocerebroside lipid is stored in the lysozymes of the reticuloendothelial cells, these lipid laden macrophages are called the Gaucher cells, in addition to the spleen, and the bone marrow are present in the liver, in the bone, in the lungs, etc. accounting for the multi-organ involvement of the disease. Its early diagnosis is very important in order to prevent damage, since nowadays we have the recombinant enzyme. In the present article we search for the bibliography about subacute and chronic neuronopathic Gaucher disease, and also we present a clinic case. [ABSTRACT FROM AUTHOR]