Pyridoxamine 5-prime-phosphate oxidase deficiency: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
===Genetics=== | ===Genetics=== | ||
Pyridoxine 5' phosphate oxidase is an enzyme involved in conversion of dietary B6 to its active form pyridoxal 5' phosphate(PLP). 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. This results in disturbances in neurotransmitters in the brain and can cause seizures. This disease is inherited in a autosomal recessive fashion. | Pyridoxine 5' phosphate oxidase is an enzyme involved in conversion of dietary B6 to its active form pyridoxal 5' phosphate(PLP)<ref name="pmid22201923">{{cite journal |author=di Salvo ML, Safo MK, Contestabile R |title=Biomedical aspects of pyridoxal 5'-phosphate availability |journal=Front Biosci (Elite Ed) |volume=4 |issue= |pages=897–913 |year=2012 |pmid=22201923 |doi= |url=}}</ref>. 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. 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== | ==Epidemiology and Demographics== | ||
Revision as of 18:24, 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. 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
- ↑ http://ghr.nlm.nih.gov/condition/pyridoxal-5-phosphate-dependent-epilepsy
- ↑ di Salvo ML, Safo MK, Contestabile R (2012). "Biomedical aspects of pyridoxal 5'-phosphate availability". Front Biosci (Elite Ed). 4: 897–913. PMID 22201923.