Reduced GABA synthesis in pyridoxine-dependent seizures

An abnormality in the pyridoxal-5'-phosphate (PLP) dependent enzyme, glutamic acid decarboxylase (GAD), which synthesises γ-aminobutyric acid (GABA), may underlie the epileptic syndrome of pyridoxine-dependent seizures. GABA synthesis by skin fibroblasts from an infant with pyridoxine-dependent...

Full description

Saved in:
Bibliographic Details
Published in:The Lancet (British edition) 1994-05, Vol.343 (8906), p.1133-1134
Main Authors: Gospe, S.M., Olin, K.L., Keen, C.L.
Format: Article
Language:English
Subjects:
Administration, Oral
Babies
Biological and medical sciences
Convulsions & seizures
Drug therapy
Electroencephalography
Errors of metabolism
Female
Fibroblasts - chemistry
Fibroblasts - metabolism
gamma-Aminobutyric Acid - analysis
gamma-Aminobutyric Acid - biosynthesis
Genetic Diseases, Inborn - diagnosis
Genetic Diseases, Inborn - drug therapy
Genetic Diseases, Inborn - metabolism
Genetics
Humans
Infant
Infants
Infusions, Intravenous
Medical research
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Pyridoxine - therapeutic use
Seizures - diagnosis
Seizures - drug therapy
Seizures - metabolism
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:An abnormality in the pyridoxal-5'-phosphate (PLP) dependent enzyme, glutamic acid decarboxylase (GAD), which synthesises γ-aminobutyric acid (GABA), may underlie the epileptic syndrome of pyridoxine-dependent seizures. GABA synthesis by skin fibroblasts from an infant with pyridoxine-dependent seizures, and from five controls, was measured. PLP independent GAD activity was similar in control and patient fibroblasts, whereas the patient's PLP dependent GAD activity was reduced compared with controls. These findings support the hypothesis for the expression of this familial disease.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(94)90236-4