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Clinical presentation of metabolic liver disease


Some clinical clues should alert paediatricians to the possibility of metabolic liver diseases. They can be classified into three categories:

  1. (i)

    Manifestations due to hepatocellular necrosis, acute or subacute, which can reveal galactosaemia, hereditary fructose intolerance, tyrosinaemia type I, Wilson disease andα 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.

  2. (ii)

    Cholestatic jaundice can revealα 1-antitrypsin deficiency, Byler's disease, cystic fibrosis, Niemann-Pick disease and some disorders of peroxisome biogenesis.

  3. (iii)

    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.

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Odievre, M. Clinical presentation of metabolic liver disease. J Inherit Metab Dis 14, 526–530 (1991).

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  • Cystic Fibrosis
  • Fatty Acid Oxidation
  • Cholesteryl Ester
  • Storage Disease
  • Urea Cycle