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  • A rare genetic hepatic disease characterised by massive hepatomegaly, moderate to severe transient hypertriglyceridaemia and hepatic steatosis (followed by fibrosis) manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalisation of triglyceride serum levels occurs with advancing age. Caused by homozygous or compound heterozygous mutation in the GPD1 gene on chromosome 12q13.
  • A rare genetic hepatic disease characterized by massive hepatomegaly, moderate to severe transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis) manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age. Caused by homozygous or compound heterozygous mutation in the GPD1 gene on chromosome 12q13.
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