| H01135 | |
| H番号 | H01135 |
| 名称 | リボース 5-リン酸イソメラーゼ欠損症 |
| 概要 | Ribose 5-phosphate isomerase (RPI) deficiency is a very rare enzymopathy of the pentose phosphate pathway with one sole diagnosed case. The patient presented with progressive leukoencephalopathy and peripheral neuropathy. Systematic metabolic profiling identified elevated levels of arabitol and ribitol in affected brain regions and body fluids. RPI gene-sequence analysis revealed a frameshift and a missense mutation. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | RPIA [HSA:22934] [KO:K01807] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C51.0 MeSH: C563212 OMIM: 608611 |
| 文献 | PMID:20499043 著者 Wamelink MM, Gruning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M タイトル The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency. 雑誌 J Mol Med (Berl) 88:931-9 (2010) DOI:10.1007/s00109-010-0634-1 PMID:14988808 著者 Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS タイトル Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. 雑誌 Am J Hum Genet 74:745-51 (2004) DOI:10.1086/383204 |