Pyridoxamine 5-prime-phosphate oxidase deficiency: Difference between revisions
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* [[Seizures]] | * [[Seizures]] | ||
* [[Confusion]] | * [[Confusion]] | ||
===Laboratory Findings=== | |||
====Electrolyte and Biomarker Studies==== | |||
* Increase in blood lactate levels may be seen. | |||
* Decrease in blood glucose levels. | |||
* Metabolic acidosis may be seen. | |||
====Electroencephalogram==== | |||
EEG findings are<ref name="pmid21292558">{{cite journal |author=Veerapandiyan A, Winchester SA, Gallentine WB, ''et al.'' |title=Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy |journal=Epilepsy Behav |volume=20 |issue=3 |pages=494–501 |year=2011 |month=March |pmid=21292558 |doi=10.1016/j.yebeh.2010.12.046 |url=}}</ref> | |||
* Inter ictal burst suppression | |||
* multifocal independent sharp waves | |||
* electrical status epilepticus in sleep | |||
==References== | ==References== | ||
Revision as of 19:05, 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.[1]
Natural History, Complications and Prognosis
Babies are born with fetal distress and seizures within few hours of birth.
Complications
- Seizures
- Encephalopathy
- Developmental delay
- Neurological problems
- Learning disorder
- Coma
- Death
Diagnosis
History
A detailed antenatal history and family history for genetic diseases may be helpful in excluding other diagnosis.
Physical Examination
Appearance of the patients
Patient may be in distress
Eyes
- Starring gaze may be noticed at times
Heart
- Slow heart rate (Bradycardia)may be seen
Neurologic
Laboratory Findings
Electrolyte and Biomarker Studies
- Increase in blood lactate levels may be seen.
- Decrease in blood glucose levels.
- Metabolic acidosis may be seen.
Electroencephalogram
EEG findings are[4]
- Inter ictal burst suppression
- multifocal independent sharp waves
- electrical status epilepticus in sleep
References
- ↑ 1.0 1.1 "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
|month=ignored (help) - ↑ Veerapandiyan A, Winchester SA, Gallentine WB; et al. (2011). "Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy". Epilepsy Behav. 20 (3): 494–501. doi:10.1016/j.yebeh.2010.12.046. PMID 21292558. Unknown parameter
|month=ignored (help)