Orphanet: Hypertryptophanemia
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Hypertryptophanemia

Disease definition

A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.

ORPHA:2224

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: E70.8
  • OMIM: 600627
  • UMLS: C2931837
  • MeSH: C538393
  • GARD: 2871
  • MedDRA: -
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