| H01124 | |
| H number | H01124 |
| Name | Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency |
| Description | Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive disorder that causes intractable seizures that are not responsive to anticonvulsant drugs and pyridoxine. Patients with this deficiency have very low concentrations of pyridoxal 5'-phosphate (PLP), leaving exogenous pyridoxal/PLP as the only source of the active cofactor. Clinically, this disease presents with neonatal epileptic encephalopathy with severe seizures which do not respond to anticonvulsant drugs or pyridoxine but shows a dramatic response to PLP. Pathogenic mutations in PNPO gene have been identified. |
| Category | Nervous system disease |
| Network | - |
| Gene | PNPO [HSA:55163] [KO:K00275] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C63.Y ICD-10: G40.8 MeSH: C566449 OMIM: 610090 |
| Reference | PMID:18485777 AUTHORS Khayat M, Korman SH, Frankel P, Weintraub Z, Hershckowitz S, Sheffer VF, Ben Elisha M, Wevers RA, Falik-Zaccai TC TITLE PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. JOURNAL Mol Genet Metab 94:431-4 (2008) DOI:10.1016/j.ymgme.2008.04.008 PMID:18024216 AUTHORS Ruiz A, Garcia-Villoria J, Ormazabal A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch R, Vilaseca MA, Ribes A TITLE A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. JOURNAL Mol Genet Metab 93:216-8 (2008) DOI:10.1016/j.ymgme.2007.10.003 |