Retrospective assessment of hepatic involvement in patients with inherited metabolism disorders: nine-year single-center experience.

Objectives: 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.
Methods: 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.
Results: 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.
Conclusions: Consanguineous marriage, affected siblings, dysmorphic findings, absence of diarrhea, and pathological abdominal USG are key predictors of IMDs in hepatic involvement cases.
(© 2025 the author(s), published by De Gruyter, Berlin/Boston.)