Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Die Hyperglycinurie ist eine benigne autosomal dominante Erkrankung die durch Mutationen in einem der Transporter für neutrale Aminosäuren (SLC36A2, SLC6A20, SLC6A19) hervorgerufen wird.
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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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Oberiter V et al. (1978) Hyperglycinuria with nephrolithiasis.
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Greene ML et al. (1973) Familial hyperglycinuria. New defect in renal tubular transport of glycine and imino acids.
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Tancredi F et al. (1970) Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids.
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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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Adams CW et al. (1967) Persistent tachycardia, paroxymal hypertension, and seizures: association with hyperglycinuria, dominantly inherited microphthalmia, and cataracts.
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DE VRIES A et al. (1957) Glycinuria, a hereditary disorder associated with nephrolithiasis.
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OMIM.ORG article Omim 138500
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