Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hartnup-Erkrankung

Die Hartnup-Störung ist eine autosomal rezessive Erkrankung, die durch Mutationen des SLC6A19-Gens ausgelöst wird. Es ist eine Störung des Transports von neutralen Aminosäuren und kann sowohl den Darm wie auch die Niere betreffen. Zu den klinischen Symptomen gehören eine Pellagra-artige Dermatitis und eine Ataxie sowie emotionale Störungen.

Einteilung

Der Typ 1 betrifft sowohl die enterale wie auch die renale Resorption von neutralen Aminosäuren, während beim Typ 2 nur die renale Resorption gestört ist.

Epidemiologie

Die Häufigkeit wird mit 1:100.000 angegeben.

Gliederung

Aminoazidurie
Cystinurie
Dicarboxyl-Aminoazidurie
Erythrocyten-Lactat-Transporter-Mangel
Fanconi-Bickel-Syndrom
Fanconi-Syndrom
Hartnup-Erkrankung
SLC6A19
Hyperglycinurie
Iminoglycinurie
Lysinurische Proteinintoleranz
Monocarboxylate-Transporter 1 Mangel
SLC36A1
SLC3A2
SLC6A18
SLC7A8

Referenzen:

1.

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

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2.

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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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

BORRIE PF et. al. (1962) Hartnup disease.

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19.

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

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20.

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

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