Abstract
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 Pediatric Metabolism Department (PMD) in a pediatric clinic.
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 PMD.
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%)). An ammonia test was requested from 8 of 15 pediatric subunits 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 PMD (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%.
Conclusions: After the establishment of PMD, an increase in ammonia test requests, in the diversity of reasons for requesting ammonia testing from admissions, and in IMD diagnosis were detected, and the positive effect of PMD on pediatricians' awareness of hyperammonemia was found.