GABA transaminase deficiency

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GABA transaminase deficiency2016-12-04T14:54:35+00:00

GABA transaminase deficiency


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. 


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