GABA transaminase deficiency

Home » Classic Medicine » Neurology » GABA transaminase deficiency
GABA transaminase deficiency2016-12-04T14:54:35+00:00

GABA transaminase deficiency

METABOLISM, NEUROLOGY

Definition GABA transaminase deficiency is an autosomal recessive enzymopathy (OMIM:613163) characterised by psychomotor retardation, hypotonia, hyperreflexia, lethargy, treatment refractory seizures, and EEG changes.

Molecular pathology Defects of ABAT, which encodes an enzyme that degrades gamma-aminobutyric acid–GABA, a key CNS neurotransmitter, cause GABA transaminase deficiency. 

References http://www.uniprot.org/uniprot/P80404

http://www.omim.org/entry/613163 

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.