Die Iminoglycinurie ist eine autosomal rezessive oder digenische Erkrankung die durch Mutationen in einem der Gene für Transporter neutraler Aminosäuren (SLC36A2, SLC6A20, SLC6A19) hervorgerufen wird. Bis auf eine vermehrte Ausscheidung von Prolin, Hydroxyprolin und Glycin im Harn verläuft die Erkrankung symptomfrei.
Die Häufigkeit wird mit 1:15.000 angegeben.
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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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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. |
4. |
Statter M et al. (1976) Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype". |
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Goodman RM et al. (1971) The question of trisomy 22 syndrome. |
6. |
Procopis PG et al. (1971) Iminoaciduria: a benign renal tubular defect. |
7. |
Whelan DT et al. (1968) Cystathioninuria and renal iminoglycinuria in a pedigree. |
8. |
Rosenberg LE et al. (1968) Familial iminoglycinuria. An inborn error of renal tubular transport. |
9. |
Tada K et al. (1965) Prolinuria: a new renal tubular defect in transport of proline and glycine. |
10. |
Goodman SI et al. (1967) Impaired intestinal transport of proline in a patient with familial iminoaciduria. |
11. |
Saito T et al. (1981) Atypical gyrate atrophy of the choroid and retina and iminoglycinuria. |
12. |
Orphanet article Orphanet ID 42062 |
13. |
OMIM.ORG article Omim 242600 |