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. 2014 Nov 25;3(4):217-227.
doi: 10.3233/PEP-14097.

Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies

Mahsa Parviz  1 , Kara Vogel  2 , K Michael Gibson  2 , Phillip L Pearl  1
Affiliations

Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies

Mahsa Parviz et al. J Pediatr Epilepsy. .

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: GABA-T deficiency; Neurometabolic diseases; SSADH deficiency; epileptic encephalopathy.

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Figures

Figure 1
Figure 1
GABA metabolic pathway
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References

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