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Background/Aims: Mucopolysaccharidoses (MPSs) are a group of progressive multisystemic diseases, and it is unknown whether there is a relationship between these system involvements. In this study, we aimed to investigate whether there is a relationship between cardiac involvement and carpal tunnel syndrome (CTS) in MPS patients. Methods: The study was conducted as a cross-sectional study between May 12, 2023, and June 30, 2024. Patients between the ages of 2 and 20 years who were diagnosed with MPS Types I, II, IV A, and VI enzymatically and genetically and who underwent electromyography for CTS screening and transthoracic echocardiography for cardiac involvement were included in the study. Results: Twenty-six MPS patients were included in the study. The mean age of the patients was 128±58 months. There was cardiac involvement in 21 (80.8%) of the patients. Heart valve involvement was present in 20 (76.9%) patients. Our study found that 14 (53.8%) of our MPS patients had CTS. CTS was present in all patients in the MPS type I, II, and VI groups but not in any MPS type IV A patients. As a result of the statistical analysis, the presence of MPS Type IV A was statistically significantly higher in the group without CTS than in the group with CTS (p<0.001). The presence of cardiac involvement, combined involvement of the aortic and mitral valves, and the severity of heart valve involvement were found to be statistically significantly higher in the patient group with CTS than in the patient group without CTS (p=0.007, p=0.005, p=0.009, respectively). Conclusions: Our study found that CTS was more common in patients with cardiac involvement, especially heart valve involvement. It seems considerable to screen these patients for CTS. [ABSTRACT FROM AUTHOR]

Background/Aims: Hyperammonemia causes severe mortality and morbidity when left unnoticed. We aimed to compare the number of ammonia test requests before and after establishing the Department of Pediatric Metabolism (DPM) in a clinic of pediatrics. Methods: The study was conducted retrospectively between 15/11/2022-16/11/2023. Study data were evaluated before (pre-group) and after (post-group) the establishment of DPM. Results: Two hundred eighty-five admissions were assessed in the study. There were 99 admissions in the pre-group and 186 in the post-group. There were 17 admissions for different reasons in the pre-group and 29 in the post-group. The most common reasons for admission were elevated transaminases, seizures, vomiting and metabolic acidosis. Definitive diagnosis was made in 16 (17.6%) patients admitted in the pre-group and 39 (23.8%) in the post-group. The most common diagnoses were genetic syndromes, mitochondrial diseases and organic acidemias. Twenty-one patients were diagnosed with inherited metabolic diseases (IMDs). Mitochondrial diseases were the most commonly diagnosed IMD (8(38%)). From the 15 pediatric subunits, ammonia test was requested from 8 in the pre-group and 13 in the post-group. In the pre-group, the pediatric subunit where ammonia was requested the most was the Pediatric Neurology Polyclinic (n=25 (25.3%)). In the post-group, the subunit that required the highest number of ammonia tests was the DPM (68(23.9%)). In the ROC analysis conducted for the predictive power of the initial ammonia level in requesting a control ammonia test, the area under the curve is 0.927, and the p-value is 0.001. For the cut-off value of 60.3 µmol/l, the sensitivity was 90.9%, and the specificity was 88.6%. Conclusion: After DPM was established, there was an increase in ammonia test requests, in the diversity of reasons for requesting ammonia testing from admissions, and in IMD diagnosis. DPM had a positive effect on pediatricians’ awareness of hyperammonemia. [ABSTRACT FROM AUTHOR]

Phenylketonuria is treated either with tetrahydrobiopterin (BH4) or with a phenylalanine-restricted diet. Patients in the diet group may tend to consume carbohydrate-rich foods which have a risk for obesity. In this study, the prevalence of obesity+overweight among phenylketonuria patients either treated with phenylalanine-restricted diet or with BH4 were compared. Patients with phenylketonuria were divided into two groups on dietary treatment and BH4 treatment. Body mass index (BMI), BMI-percentile, and z-score values of patients were calculated and classified as underweight, normal-weight, overweight, and obese according to their nutritional status. The annual mean phenylalanine level of each patient is also evaluated. The study was done retrospectively.A total of 130 patients was included. 77 were receiving diet (female (n,%):37, 48.1%; male (n,%):40, 51.9%) and 53 were receiving BH4 (female (n,%):33, 62.3%; male (n,%):20, 37.7%) respectively. According to BMI-z-score, the sum of the ratio of obesity+overweight was found to be 35.1% in the diet group, 16.9% in the BH4 group. Ratio was significantly higher in diet group (p=0.02). When obesity+overweight ratios were examined in terms of female/male distribution, no significant difference was found. Considering the correlation of obesity+overweight ratios with age in two groups, the median age of the patients with normal weight+underweight in the BH4 group were found as 46-months, and the median age of obese+overweight patients was 137-months (p=0.001). For the same situation, there was no significant difference in the dietary treatment group (p=0.92). Mean annual phenylalanine levels were significantly higher in obese+overweight patients (p=0.047) in the BH4 treatment group but this difference was not significant in the diet group (p=0.051). Patients on the phenylalanine-restricted diet have a risk of obesity or overweight. Therefore, attention should be paid not only to the phenylalanine levels of these patients but also to their weight control and dietary content. [ABSTRACT FROM AUTHOR]

To compare the glycemic index(GI),obesity,echocardiographic,and arterial stiffness measurements with the healthy control group to evaluate the cardiovascular risk of pediatric classical phenylketonuria(PKU). The study was a prospective observational,involving 104 pediatric volunteers between 2019 and 2020.Two groups were formed:the PKU patient group and the healthy control group.These two groups were further divided into three subgroups:obese,overweight,and normal weight.The patients' anthropometric measurements,body fat analysis,biochemical analysis, GI and glycemic load(GL),arterial stiffness measurements,and echocardiographic findings were recorded. The PKU patient group's glucose,total cholesterol,LDL,and HDL values were significantly lower than the healthy control group(p = 0.010 for glucose and p = 0.001 for total cholesterol,LDL and HDL).Triglyceride levels were higher in the PKU patient group than in the healthy controls(109.6 vs. 76.7 mg/dl,p = 0.001). GI and GL were significantly lower in the PKU patient group than in the healthy control group(GI 453 vs. 392.9, p = 0.017 and GL 101.1 vs. 85.5, p = 0.036).Left ventricular mass(LVM)-z-score and LVM index were significantly higher in the PKU group than in the healthy control group(LVM z-score 0.9 vs. 0.5, p = 0.014 and LVM index 38.9 vs. 32.7 g/m2.7, p = 0.001). A moderately statistically significant positive correlation was found between the mean phenylalanine(phe) value and pulse wave velocity(PWV) among the PKU patient groups(R: 0.477, p < 0.001).A moderately statistically significant positive correlation was also found between waist circumference and PWV in the PKU patient group(R:0.541, p < 0.001). Our study found that close follow-up of phe levels and PWV is more critical than obesity, GI, and GL in the cardiovascular evaluation of classical PKU patients.A large number of multicenter pediatric studies are needed in this area. [ABSTRACT FROM AUTHOR]

The purpose of this study is comparing the newborn hearing screening failure rate between phenylketonuria (PKU) infants and matched healthy control infants. Between April 2021 and April 2023, data obtained from the national newborn hearing screening program were examined for patients who presented to the pediatric metabolism clinic of Konya City Hospital with a clinical and genetic diagnosis of PKU. A healthy control group, matched for age and gender, was established. The newborn hearing screening test results, demographic information, and pregnancy data of infants with PKU and the control group were compared to assess risk factors. In the initial screening test, 23 out of 73 PKU infants (31.5%) and 12 out of 73 infants in the control group (16.4%) failed the test (p = 0.033). Among the 23 PKU infants who did not pass the first test, 9 (35%) also failed the second test and were referred. In contrast, all 12 infants in the control group who did not pass the first test passed the second test. The failure rate in the second test was significantly higher in PKU infants compared to the control group (p = 0.003). It was observed that the maternal age of PKU infants who underwent the second test was significantly higher than that of the control group (p < 0.029). Diagnostic hearing test results were found to be normal in all nine PKU patients who failed the secondary screening test and were referred to a tertiary center. In our study, it was determined that infants with phenylketonuria (PKU) who did not have any risk factors for hearing loss failed the hearing screening test significantly more than healthy infants. [ABSTRACT FROM AUTHOR]