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Clinical presentation of metabolic liver disease
Author(s) -
Odievre M.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01797922
Subject(s) - metabolic disease , presentation (obstetrics) , medicine , human genetics , liver disease , bioinformatics , biology , genetics , surgery , gene
Summary Some clinical clues should alert paediatricians to the possibility of metabolic liver diseases. They can be classified into three categories: Manifestations due to hepatocellular necrosis, acute or subacute, which can reveal galactosaemia, hereditary fructose intolerance, tyrosinaemia type I, Wilson disease and α 1 ‐antitrypsin deficiency. Symptoms and signs suggestive of Reye syndrome should lead to a study of fatty acid oxidation and urea cycle enzymes. All these manifestations may necessitate a rapid diagnosis and treatment when liver dysfunction is severe. Cholestatic jaundice can reveal α 1 ‐antitrypsin deficiency, Byler's disease, cystic fibrosis, Niemann‐Pick disease and some disorders of peroxisome biogenesis. Hepatomegaly can reveal disorders with liver damage but also storage diseases such as glycogen storage diseases, cholesteryl ester storage disease and, when associated with splenomegaly, lysosomal storage diseases.Appropriate investigations for recognizing all these entities are proposed.