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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]