Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy.

Abstract

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.

• Authors: Jaak Jaeken
• Journal: Journal of child neurology (J Child Neurol) Vol. 17 Suppl 3 Pg. 3S84-7; discussion 3S88 (Dec 2002) ISSN: 0883-0738 [Print] United States
• PMID: 12597057 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Serine
• gamma-Aminobutyric Acid
• Glycine

Topics

• Amino Acid Metabolism, Inborn Errors (complications, genetics)
• Epilepsy (genetics, metabolism)
• Female
• Glycine (metabolism)
• Humans
• Infant, Newborn
• Serine (metabolism)
• gamma-Aminobutyric Acid (metabolism)