Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Hyperglycinurie

Die Hyperglycinurie ist eine benigne autosomal dominante Erkrankung die durch Mutationen in einem der Transporter für neutrale Aminosäuren (SLC36A2, SLC6A20, SLC6A19) hervorgerufen wird.

Gliederung

Aminoazidurie
Cystinurie
Dicarboxyl-Aminoazidurie
Erythrocyten-Lactat-Transporter-Mangel
Fanconi-Bickel-Syndrom
Fanconi-Syndrom
Hartnup-Erkrankung
Hyperglycinurie
SLC36A2
SLC6A19
SLC6A20
Iminoglycinurie
Lysinurische Proteinintoleranz
Monocarboxylate-Transporter 1 Mangel
SLC36A1
SLC3A2
SLC6A18
SLC7A8

Referenzen:

1.

Bröer S et al. (2008) Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.

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2.

Oberiter V et al. (1978) Hyperglycinuria with nephrolithiasis.

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3.

Greene ML et al. (1973) Familial hyperglycinuria. New defect in renal tubular transport of glycine and imino acids.

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4.

Tancredi F et al. (1970) Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids.

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5.

None (1968) Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney.

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6.

Adams CW et al. (1967) Persistent tachycardia, paroxymal hypertension, and seizures: association with hyperglycinuria, dominantly inherited microphthalmia, and cataracts.

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7.

DE VRIES A et al. (1957) Glycinuria, a hereditary disorder associated with nephrolithiasis.

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8.

OMIM.ORG article

Omim 138500 external link
Update: 14. August 2020
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