| H01135 | |
| H number | H01135 |
| Name | Ribose 5-phosphate isomerase deficiency |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | RPIA [HSA:22934] [KO:K01807] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C51.0 MeSH: C563212 OMIM: 608611 |
| Reference | PMID:20499043 AUTHORS Wamelink MM, Gruning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M TITLE The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency. JOURNAL J Mol Med (Berl) 88:931-9 (2010) DOI:10.1007/s00109-010-0634-1 PMID:14988808 AUTHORS Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS TITLE Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. JOURNAL Am J Hum Genet 74:745-51 (2004) DOI:10.1086/383204 |