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Hartnup disorder

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.

Classification

Type 1 includes enteral and renal resorption of neutral amino acids while in type 2 renal resorption is deficient only.

Epidemiology

The prevalence of Hartnup disease is about 1 in 100,000.

Systematic

Aminoaciduria
Cystinuria
Dicarboxylic aminoaciduria
Erythrocyte lactate transporter defect
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Hartnup disorder
SLC6A19
Hyperglycinuria
Iminoglycinuria
Lysinuric protein intolerance
Monocarboxylate transporter 1 deficiency
SLC36A1
SLC3A2
SLC6A18
SLC7A8

References:

1.

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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2.

None (1965) HARTNUP DISEASE: A GENETIC MODIFICATION OF INTESTINAL AND RENAL TRANSPORT OF CERTAIN NEUTRAL ALPHA-AMINO ACIDS.

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3.

SRIKANTIA SG et al. (1964) CLINICAL AND BIOCHEMICAL FEATURES OF A CASE OF HARTNUP DISEASE.

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4.

BORRIE PF et al. (1962) Hartnup disease.

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5.

MILNE MD et al. (1960) The metabolic disorder in Hartnup disease.

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6.

Nozaki J et al. (2001) Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder.

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7.

Symula DJ et al. (1997) A candidate mouse model for Hartnup disorder deficient in neutral amino acid transport.

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8.

Symula DJ et al. (1997) Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse.

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9.

Shih VE et al. (1984) Occurrences of methylmalonic aciduria and Hartnup disorder in the same family.

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10.

Seakins JW et al. (1967) Effects of amino acid loads on a health infant with the biochemical features of Hartnup disease.

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11.

Lopez F et al. (1969) Hartnup disease in two Colombian siblings.

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12.

Pomeroy J et al. (1968) Hartnup disorder in a New England family.

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13.

Shih VE et al. (1971) Studies of intestinal transport defect in Hartnup disease.

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14.

Levy HL et al. (1972) Massachusetts metabolic disorders screening program. I. Technics and results of urine screening.

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15.

Mahon BE et al. (1986) Maternal Hartnup disorder.

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16.

Scriver CR et al. (1987) The Hartnup phenotype: Mendelian transport disorder, multifactorial disease.

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17.

Mori E et al. (1989) [Adult-onset Hartnup disease presenting with neuropsychiatric symptoms but without skin lesions].

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18.

Schmidtke K et al. (1992) Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study.

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19.

Wilcken B et al. (1977) Natural history of Hartnup disease.

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20.

Kleta R et al. (2004) Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.

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21.

Orphanet article

Orphanet ID 2116 external link
22.

OMIM.ORG article

Omim 234500 external link
23.

Wikipedia article

Wikipedia EN (Hartnup_disease) external link
Update: Aug. 14, 2020
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