A case of galactosemia with atrial septal defect presenting with ascite and liver failure

Abstract

Galactosemia is a congenital metabolic disease resulting from the deficiency of one of the galactose-1-phosphate uridyl transferase, galactokinase and uridine diphosphate galactose-4-epimerase enzymes involved in galactose metabolism. The most common enzyme deficiency is galactose-1-phosphate uridyl transferase deficiency which causes classical galactosemia. In the absence of this enzyme, galactose and its metabolites accumulate in various parts of the body such as the liver, brain, lens, kidneys, tongue, and skin fibroblasts. Clinical findings usually emerge after the first week of life. The most common clinical findings are nutritional problems, jaundice, vomiting, hypotonia and hepatomegaly. Rarely, some cases may be seen with early abdominal swelling and ascites in the abdomen. In this study, we presented a 29 - day - old newborn with galactosemia and atrial septal defect who was presented with abdominal ascites that started from birth and progressed rapidly.