| H01304 | |
| H番号 | H01304 |
| 名称 | 高グリシン尿症 |
| 概要 | Hyperglycinuria (HG) is an autosomal recessive abnormality of renal transport of glycine, resulting from mutations in genes encoding proline and glycine transporters. |
| カテゴリ | 泌尿器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | SLC6A20 [HSA:54716] [KO:K05048] SLC6A19 [HSA:340024] [KO:K05334] SLC36A2 [HSA:153201] [KO:K14209] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Iminoglycinuria [DS:H00905] is related disorder. |
| リンク | ICD-11: 5C60.Y OMIM: 138500 |
| 文献 | PMID:19033659 著者 Broer S, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Broer A, Rasko JE タイトル Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. 雑誌 J Clin Invest 118:3881-92 (2008) DOI:10.1172/JCI36625 |