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Hartnup disease

Disease definition

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

ORPHA:2116

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

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.