Journal article
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies
Journal of pediatric epilepsy, Vol.3(4), pp.217-227
11/25/2014
Handle:
https://hdl.handle.net/2376/105734
PMCID: PMC4256671
PMID: 25485164
Abstract
Clinical disorders known to affect inherited gamma-amino butyric acid (GABA) metabolism are autosomal recessively inherited succinic semialdehyde dehydrogenase and GABA-transaminase deficiency. The clinical presentation of succinic semialdehyde dehydrogenase deficiency includes intellectual disability, ataxia, obsessive-compulsive disorder and epilepsy with a nonprogressive course in typical cases, although a progressive form in early childhood as well as deterioration in adulthood with worsening epilepsy are reported. GABA-transaminase deficiency is associated with a severe neonatal-infantile epileptic encephalopathy.
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Details
- Title
- Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies
- Creators
- Mahsa Parviz - Harvard Medical School and Boston Children's Hospital, Boston, Massachusetts, USAKara Vogel - Biological Pharmacology, Washington State University, Pullman, Washington, USAK. Michael Gibson - Biological Pharmacology, Washington State University, Pullman, Washington, USAPhillip L Pearl - Harvard Medical School and Boston Children's Hospital, Boston, Massachusetts, USA
- Publication Details
- Journal of pediatric epilepsy, Vol.3(4), pp.217-227
- Academic Unit
- Pharmacotherapy, Department of
- Identifiers
- 99900547072901842
- Language
- English
- Resource Type
- Journal article