PDF herunterladen
Journal of Pediatric Epilepsy 2014; 03(04): 217-227
DOI: 10.3233/PEP-14097
Review Article
Georg Thieme Verlag KG Stuttgart – New York

Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies

Mahsa Parviz
a   Harvard Medical School and Boston Children's Hospital, Boston, MA, USA
,
Kara Vogel
b   Biological Pharmacology, Washington State University, Pullman, Washington, USA
,
K. Michael Gibson
b   Biological Pharmacology, Washington State University, Pullman, Washington, USA
,
Phillip L. Pearl
a   Harvard Medical School and Boston Children's Hospital, Boston, MA, USA
› Institutsangaben
Verantwortlicher Herausgeber dieser Rubrik:
Weitere Informationen

Publikationsverlauf

16. Januar 2013

16. Januar 2013

Publikationsdatum:
18. Juli 2015 (online)

Auch verfügbar auf
  als PDF herunterladen  Lizenzen und Reprints

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.

Keywords

Neurometabolic diseases - SSADH deficiency - GABA-T deficiency - epileptic encephalopathy