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Transient infantile hypertriglyceridemia and hepatosteatosis

Disease definition

Transient infantile hypertriglyceridemia and hepatosteatosis is 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.

ORPHA:300293

Classification level: Disorder
  • Synonym(s):
    • Transient infantile hypertriglyceridemia and fatty liver
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 614480
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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