Description of the disease * EnglishPolish Pobierz sekcję do PDF 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). Disease data Classification Disease Synonyms Aminoaciduria, Hartnup type Aminoaciduria typu Hartnupów Choroba Hartnupów Hartnup disorder ORPHA code 2116 OMIM code 234500 ICD10 code E72.0 ICD11 code 5C60.Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl