Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
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Seow HF et al. (2004) Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. 
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Mori E et al. (1989) [Adult-onset Hartnup disease presenting with neuropsychiatric symptoms but without skin lesions].
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Kleta R et al. (2004) Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
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Orphanet article Orphanet ID 2116
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OMIM.ORG article Omim 234500
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Wikipedia article Wikipedia EN (Hartnup_disease)
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