2015/07/18 by Mahsa Parviz, Kara R. Vogel, K. Michael Gibson +1 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Metabolomics and Mass Spectrometry Studies #Metabolism and Genetic Disorders #Diet and metabolism studies
paper · doi:10.3233/pep-14097
openalex publication_date 2015/07/18 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
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.