Research Information System
Journal of Pediatric Endocrinology and Metabolism, 2025 (SCI-Expanded)
This study aimed to identify clinical, laboratory, and radiological features that could serve as red flags for diagnosing inherited metabolic disorders (IMDs) with hepatic involvement in childhood. We retrospectively reviewed the medical records of 1,237 children from a pediatric metabolism department, with suspected or diagnosed IMDs. Patients with hepatic involvement were divided into two groups: Group 1 (diagnosed with IMDs) and Group 2 (undiagnosed). Demographic, clinical, laboratory, and radiological data were compared between the groups. Hepatic involvement was observed in 415 patients (33.5 » %), with 206 (49.2%) diagnosed with IMDs. Group 1 had higher rates of consanguineous marriage and affected siblings. Complex molecule disorders (20.4%), mitochondrial (16.0%), and lipid metabolism disorders (16.0%) were the most common IMDs. Dysmorphic findings were more frequent in Group 1 (28.2 vs. 16.3%, p=0.004), while diarrhea was less common (4.4 vs. 12.0%, p=0.005). Ammonia and lactate levels were higher in Group 1 (p<0.001 and p=0.032, respectively). Hepatomegaly was more frequent in Group 1 (53.3 vs. 22.6%, p<0.001). Pathological abdominal ultrasonography was the only significant multivariate predictor (OR: 89.377, p=0.026). Overall survival was 87.7%, with no difference between groups. Consanguineous marriage, affected siblings, dysmorphic findings, absence of diarrhea, and pathological abdominal USG are key predictors of IMDs in hepatic involvement cases.