Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy.
Genetic disorders of gamma-aminobutyric acid (GABA), glycine, and serine metabolism and of the GABA and glycine receptors are causes of epilepsy with variable responsiveness to treatment. Pyridoxine-dependent convulsions and the GABA(A) receptor defects are pure epileptic disorders that respond well to treatment. The convulsions associated with 3-phosphoglycerate dehydrogenase deficiency can be completely abolished with amino acid therapy. Epilepsy is a major symptom in succinic semialdehyde dehydrogenase deficiency. The convulsions in these disorders are not responsive or are only partially responsive to treatment.
Jaeken
Jaak
J
Center for Metabolic Disease, Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium. jaak.jaeken@uz.kuleuven.ac.be
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics* / Q000378:metabolism*; D005260:Female; D005998:Glycine / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D012694:Serine / Q000378:metabolism*; D005680:gamma-Aminobutyric Acid / Q000378:metabolism*
D012694:Serine; D005680:gamma-Aminobutyric Acid; D005998:Glycine