GABA-transaminase deficiency

Definition:

GABA-transaminase deficiency is a very rare inborn error of GABA degradation. The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and electroencephalographic abnormalities.

References:

[1]. L K Medina-Kauwe, et al. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J Inherit Metab Dis. 1999 Jun;22(4):414-27. [Content Brief]

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