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Hypertryptophanemia

Disease definition

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

ORPHA:2224

  • 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: -

Additional information

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