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
Referenzen:
| 1. |
Bröer S et al. (2008) Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. [^] |
| 2. |
Oberiter V et al. (1978) Hyperglycinuria with nephrolithiasis. [^] |
| 3. |
Greene ML et al. (1973) Familial hyperglycinuria. New defect in renal tubular transport of glycine and imino acids. [^] |
| 4. |
Tancredi F et al. (1970) Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids. [^] |
| 5. |
None (1968) Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney. [^] |
| 6. |
Adams CW et al. (1967) Persistent tachycardia, paroxymal hypertension, and seizures: association with hyperglycinuria, dominantly inherited microphthalmia, and cataracts. [^] |
| 7. |
DE VRIES A et al. (1957) Glycinuria, a hereditary disorder associated with nephrolithiasis. [^] |
| 8. |
OMIM.ORG article Omim 138500 [^] |
