| H01304 | |
| H number | H01304 |
| Name | Hyperglycinuria |
| Description | Hyperglycinuria (HG) is an autosomal recessive abnormality of renal transport of glycine, resulting from mutations in genes encoding proline and glycine transporters. |
| Category | Urinary system disease |
| Network | - |
| Gene | SLC6A20 [HSA:54716] [KO:K05048] SLC6A19 [HSA:340024] [KO:K05334] SLC36A2 [HSA:153201] [KO:K14209] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Iminoglycinuria [DS:H00905] is related disorder. |
| Other DBs | ICD-11: 5C60.Y OMIM: 138500 |
| Reference | PMID:19033659 AUTHORS Broer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Broer A, Rasko JE TITLE Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. JOURNAL J Clin Invest 118:3881-92 (2008) DOI:10.1172/JCI36625 |