Abstract
Liver dysfunction can be a form of presentation of some metabolic disease in children. The aim of this study is review all cases of liver dysfunction found in pediatric department and correlate with other clinical and laboratory findings for the diagnosis of metabolic disorder. The results showed 9 cases (8M/1F), with the mean age of 30 months with metabolic diseases: tyrosinemia type 1, alpha1 antitrypsin (A1AT), ornithine transcarbamylase (OTC), citrin deficiency (2 cases), Danon disease, fructose intolerance, lysinuria and glucogenosis type 1. We conclude that clinical presentation and laboratory findings are important for the diagnosis. Molecular studies confirm the final diagnosis and help us for future genetic counseling and prenatal diagnosis.
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