Hartnup syndrome (Q53436): Difference between revisions

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Latest revision as of 00:55, 14 August 2026

Hartnup syndrome is a rare metabolic disorder belonging to the neutral aminoacidurias and characterised by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). It can be asymptomatic or present with skin photosensitivity, neurological or psychiatric symptoms.

Language	Label	Description	Also known as
default for all languages	ID_871897464
English	Hartnup syndrome	Hartnup syndrome is a rare metabolic disorder belonging to the neutral aminoacidurias and characterised by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). It can be asymptomatic or present with skin photosensitivity, neurological or psychiatric symptoms.