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.
Kleta R et. al. (2004) Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.[^]
Seow HF et. al. (2004) Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.[^]
Wilcken B et. al. (1977) Natural history of Hartnup disease.[^]
Schmidtke K et. al. (1992) Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study.[^]
Mori E et. al. (1989) [Adult-onset Hartnup disease presenting with neuropsychiatric symptoms but without skin lesions].[^]
Scriver CR et. al. (1987) The Hartnup phenotype: Mendelian transport disorder, multifactorial disease.[^]
Mahon BE et. al. (1986) Maternal Hartnup disorder.[^]
Levy HL et. al. (1972) Massachusetts metabolic disorders screening program. I. Technics and results of urine screening.[^]
Shih VE et. al. (1971) Studies of intestinal transport defect in Hartnup disease.[^]
Pomeroy J et. al. (1968) Hartnup disorder in a New England family.[^]
Lopez F et. al. (1969) Hartnup disease in two Colombian siblings.[^]
Seakins JW et. al. (1967) Effects of amino acid loads on a health infant with the biochemical features of Hartnup disease.[^]
Shih VE et. al. (1984) Occurrences of methylmalonic aciduria and Hartnup disorder in the same family.[^]
Symula DJ et. al. (1997) Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse.[^]
Symula DJ et. al. (1997) A candidate mouse model for Hartnup disorder deficient in neutral amino acid transport.[^]
Nozaki J et. al. (2001) Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder.[^]
MILNE MD et. al. (1960) The metabolic disorder in Hartnup disease.[^]
BORRIE PF et. al. (1962) Hartnup disease.[^]
SRIKANTIA SG et. al. (1964) CLINICAL AND BIOCHEMICAL FEATURES OF A CASE OF HARTNUP DISEASE.[^]
None (1965) HARTNUP DISEASE: A GENETIC MODIFICATION OF INTESTINAL AND RENAL TRANSPORT OF CERTAIN NEUTRAL ALPHA-AMINO ACIDS.[^]