| H00905 | |
| H番号 | H00905 |
| 名称 | イミノグリシン尿症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | SLC36A2 [HSA:153201] [KO:K14209] SLC6A19 [HSA:340024] [KO:K05334] SLC6A20 [HSA:54716] [KO:K05048] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C60.Y ICD-10: E72.0 MeSH: C536285 OMIM: 242600 |
| 文献 | PMID:18195088 著者 Broer S タイトル Amino acid transport across mammalian intestinal and renal epithelia. 雑誌 Physiol Rev 88:249-86 (2008) DOI:10.1152/physrev.00018.2006 PMID:18200002 著者 Camargo SM, Bockenhauer D, Kleta R タイトル Aminoacidurias: Clinical and molecular aspects. 雑誌 Kidney Int 73:918-25 (2008) DOI:10.1038/sj.ki.5002790 PMID:20377526 著者 Vanslambrouck JM, Broer A, Thavyogarajah T, Holst J, Bailey CG, Broer S, Rasko JE タイトル Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria. 雑誌 Biochem J 428:397-407 (2010) DOI:10.1042/BJ20091667 |