Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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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