Duarte variant in congenital galactosemia: Diagnosis difficulties

Abstract

Aim: to stress on diagnosis difficulties in galactosemia with partial enzyme deficiency. Case report: Our patient, born from consanguineous Lybian parents, presented with prolonged neonatal fatty diarrhea and poor weight gain. Exocrine pancreatic insufficiency was documented and cystic fibrosis was ruled out. He presented later with hepatomegaly, edema, ascites and skin pallor. He had hepatic failure with slight elevation of alpha-foetoprotein and renal tubular dysfunction. Residual activity of uridyl galactose-1-phosphate transferase was about 50% of normal. There were no cataract and no urine reducing substances. Galactosemia was confirmed by identification of homozygous N314 mutation (D2 variant). Conclusion: Molecular study is sometimes mandatory to diagnose galactosemia with partial enzyme deficiency.