Pyridoxamine 5-prime-phosphate oxidase deficiency: Difference between revisions
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{{SK}} PNPO deficiency; PNPO-related neonatal epileptic encephalopathy; pyridoxamine 5-prime-phosphate oxidase deficiency; pyridoxine-5'-phosphate oxidase deficiency | {{SK}} PNPO deficiency; PNPO-related neonatal epileptic encephalopathy; pyridoxamine 5-prime-phosphate oxidase deficiency; pyridoxine-5'-phosphate oxidase deficiency | ||
==Overview== | ==Overview== | ||
Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; approximately 14 cases have been described so far. It is a condition that involves seizures beginning soon after birth or, in some cases, before birth. <ref>http://ghr.nlm.nih.gov/condition/pyridoxal-5-phosphate-dependent-epilepsy</ref> | Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; approximately 14 cases have been described so far. It is a condition that involves seizures beginning soon after birth or, in some cases, before birth. <ref name="urlPyridoxal 5-phosphate-dependent epilepsy - Genetics Home Reference">{{cite web |url=http://ghr.nlm.nih.gov/condition/pyridoxal-5-phosphate-dependent-epilepsy |title=Pyridoxal 5'-phosphate-dependent epilepsy - Genetics Home Reference |format= |work= |accessdate=}}</ref> | ||
==Pathophysiology== | ==Pathophysiology== | ||
===Genetics=== | ===Genetics=== | ||
Revision as of 18:28, 2 August 2012
| Pyridoxamine 5-prime-phosphate oxidase deficiency | |
| ICD-10 | G40.8 |
|---|---|
| OMIM | 610090 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: PNPO deficiency; PNPO-related neonatal epileptic encephalopathy; pyridoxamine 5-prime-phosphate oxidase deficiency; pyridoxine-5'-phosphate oxidase deficiency
Overview
Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; approximately 14 cases have been described so far. It is a condition that involves seizures beginning soon after birth or, in some cases, before birth. [1]
Pathophysiology
Genetics
Pyridoxine 5' phosphate oxidase is an enzyme involved in conversion of dietary B6 to its active form pyridoxal 5' phosphate(PLP)[2]. This active form of vitamin B6 is useful in the metabolism of proteins and neurotransmitters of brain. PNPO gene mutations result in a pyridoxine 5' phosphate oxidase enzyme that is unable to metabolize pyridoxine and pyridoxamine, leading to a deficiency of PLP[3]. This results in disturbances in neurotransmitters in the brain and can cause seizures. This disease is inherited in a autosomal recessive fashion.
Epidemiology and Demographics
Pyridoxamine 5-prime-phosphate oxidase deficiency is a rare disease. Only 14 cases have been reported so far.
References
- ↑ "Pyridoxal 5'-phosphate-dependent epilepsy - Genetics Home Reference".
- ↑ di Salvo ML, Safo MK, Contestabile R (2012). "Biomedical aspects of pyridoxal 5'-phosphate availability". Front Biosci (Elite Ed). 4: 897–913. PMID 22201923.
- ↑ Mills PB, Surtees RA, Champion MP; et al. (2005). "Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase". Hum. Mol. Genet. 14 (8): 1077–86. doi:10.1093/hmg/ddi120. PMID 15772097. Unknown parameter
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