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Detailed information of PYRIDOXINE DEFICIENCY
PYRIDOXINE DEFICIENCY
DEFINITION:
A metabolic disorder inheritied as an autosomal recessive trait
and characterized by neonatal seizures.
EPIDEMIOLOGY:
- incidence: ?
- age of onset:
- in utero or soon after birth (seizures)
- risk factors:
- familial - autosomal recessive
PATHOGENESIS:
- as pyridoxine (Vit B6) acts as a cofactor for glutamic acid
decarboxylase, a deficiency in pyridoxine results in a relative
deficency of GAD and thus interferes with the synthesis of GABA.
CLINICAL FEATURES:
- focal or multifocal clonic, myoclonic
- may occur in utero or neonatally
- seizures may progess to status
- may be accompanied by meconium-staining, hypotonia, and
other signs of fetal distress
- mental deficiency if persistent seizures are left untreated
INVESTIGATIONS:
- characterized by generalized spike, polyspike and
burst-suppression patterns
2. Biochemical
- plasma or CSF pyridoxal-5-phosphate
MANAGEMENT:
- seizures highly refractory
2. Pyridoxine
- acute - seizure and EEG responds in minutes in 100 mg IV of
pyridoxine
- chronic - pyridoxine supplementation is needed for life
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Pediatric Database - PYRIDOXINE DEFICIENCY
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