Hartnup disease is an autosomal recessive disorder caused by mutations of the SLC6A19 gene, which encodes a tranporter of neutral amino acids expressed in both the kidney and intestine. Symptoms include pellgra-like dematitis, ataxia, and emotional instability.
Type 1 includes enteral and renal resorption of neutral amino acids while in type 2 renal resorption is deficient only.
The prevalence of Hartnup disease is about 1 in 100,000.
|Erythrocyte lactate transporter defect|
|Fanconi renotubular syndrome|
|Lysinuric protein intolerance|
|Monocarboxylate transporter 1 deficiency|
Seow HF et al. (2004) Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.
None (1965) HARTNUP DISEASE: A GENETIC MODIFICATION OF INTESTINAL AND RENAL TRANSPORT OF CERTAIN NEUTRAL ALPHA-AMINO ACIDS.
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Orphanet articleOrphanet ID 2116
OMIM.ORG articleOmim 234500
Wikipedia articleWikipedia EN (Hartnup_disease)