Hartnup syndrome

Also known as: Hartnup disease

Neutral aminoaciduria with pellagra-like rash.

Medical specialty: Genetics
Subspecialty: Metabolic / Aminoacidurias
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: SLC6A19

Etiology & mechanism

SLC6A19 loss.

Gene(s) involved (1)

SLC6A19

Symptoms & signs (4)

ataxianeutral aminoaciduriaphotosensitive rashpsychiatric symptoms

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.