succinic semialdehyde dehydrogenase deficiency

A rare (±350 families in the world literature) autosomal recessive condition (OMIM:271980) characterised by a defect in metabolism of the neurotransmitter 4-aminobutyric acid (GABA), resulting in an accumulation of GHB, a compound with numerous neuromodulatory properties.
Clinical findings
Most common in consanguineous pedigrees; delays in intellectual, motor, speech and language milestones; ocular problems, including strabismus, nystagmus, retinitis and oculomotor apraxia; also, hypotonia, hyporreflexia, seizures, nonprogressive ataxia, hyperkinesis, hyperreflexia, autism, myopathy and choreoathetosis.
Imaging
T2-weighted signal defects of the globus pallidus (bilaterally and symmetrically), brainstem and cerebellar dentate nucleus; presence of subcortical white matter, attributed to oedema or an inflammation.
Molecular pathology
Mutation of ALDH5A1 on chromosome 6p22.

单词	succinic semialdehyde dehydrogenase deficiency
释义	succinic semialdehyde dehydrogenase deficiency succinic semialdehyde dehydrogenase deficiency A rare (±350 families in the world literature) autosomal recessive condition (OMIM:271980) characterised by a defect in metabolism of the neurotransmitter 4-aminobutyric acid (GABA), resulting in an accumulation of GHB, a compound with numerous neuromodulatory properties. Clinical findings Most common in consanguineous pedigrees; delays in intellectual, motor, speech and language milestones; ocular problems, including strabismus, nystagmus, retinitis and oculomotor apraxia; also, hypotonia, hyporreflexia, seizures, nonprogressive ataxia, hyperkinesis, hyperreflexia, autism, myopathy and choreoathetosis. Imaging T2-weighted signal defects of the globus pallidus (bilaterally and symmetrically), brainstem and cerebellar dentate nucleus; presence of subcortical white matter, attributed to oedema or an inflammation. Molecular pathology Mutation of ALDH5A1 on chromosome 6p22.
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