| H00905 | |
| H number | H00905 |
| Name | Iminoglycinuria |
| Description | Iminoglycinuria is a benign condition characterized by the excretion of proline, hydroxyproline, and glycine in the urine. The disorder is of autosomal recessive inheritance and is genetically complex. Inactivation or reduced function of SLC36A2 (PAT-2) is the predominant determinant of the iminoglycinuria phenotype in humans. Mutations in SLC6A20 (SIT-1) and SLC6A19 (B0AT1) could also be the cause. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | SLC36A2 [HSA:153201] [KO:K14209] SLC6A19 [HSA:340024] [KO:K05334] SLC6A20 [HSA:54716] [KO:K05048] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C60.Y ICD-10: E72.0 MeSH: C536285 OMIM: 242600 |
| Reference | PMID:18195088 AUTHORS Broer S TITLE Amino acid transport across mammalian intestinal and renal epithelia. JOURNAL Physiol Rev 88:249-86 (2008) DOI:10.1152/physrev.00018.2006 PMID:18200002 AUTHORS Camargo SM, Bockenhauer D, Kleta R TITLE Aminoacidurias: Clinical and molecular aspects. JOURNAL Kidney Int 73:918-25 (2008) DOI:10.1038/sj.ki.5002790 PMID:20377526 AUTHORS Vanslambrouck JM, Broer A, Thavyogarajah T, Holst J, Bailey CG, Broer S, Rasko JE TITLE Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria. JOURNAL Biochem J 428:397-407 (2010) DOI:10.1042/BJ20091667 |