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Hartnup disease

Disease definition

A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).


Classification level: Disorder
  • Synonym(s):
    • Aminoaciduria, Hartnup type
    • Hartnup disorder
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.0
  • ICD-11: 5C60.Y
  • OMIM: 234500
  • UMLS: C0018609
  • MeSH: D006250
  • GARD: 6569
  • MedDRA: 10019165
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