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Hartnup disease
rareHartnup 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).
- Identifiers
- MONDO:0009324 OMIM:234500Orphanet:2116
- Causal genes
- SLC6A19
- Also known as
- aminoaciduria, Hartnup type · Hartnup disorder · HND
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