| H01247 | |
| H number | H01247 |
| Name | Pyridoxine-dependent epilepsy |
| Description | Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive epileptic encephalopathy characterized by a therapeutic response to pharmacological dosages of pyridoxine hydrochloride (vitamin B6) and resistance to conventional antiepileptic treatment. Antiquitin (ATQ) deficiency is the main cause of PDE. Antiquitin is encoded by ALDH7A1 gene, and functions in the lysine degradation pathway. Its deficiency results in accumulation of alpha-aminoadipic semialdehyde (AASA), piperideine-6-carboxylate (P6C) and pipecolic acid, which serve as diagnostic markers in urine, plasma, and CSF. |
| Category | Nervous system disease |
| Network | nt06036(H01247) Lysine degradation |
| Gene | ALDH7A1 [HSA:501] [KO:K14085] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A61.0Y ICD-10: G40.8 MeSH: C536254 OMIM: 266100 |
| Reference | PMID:16491085 AUTHORS Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT TITLE Mutations in antiquitin in individuals with pyridoxine-dependent seizures. JOURNAL Nat Med 12:307-9 (2006) DOI:10.1038/nm1366 PMID:21704546 AUTHORS Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL TITLE Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. JOURNAL Mol Genet Metab 104:48-60 (2011) DOI:10.1016/j.ymgme.2011.05.014 |