Succinic Semialdehyde Dehydrogenase Deficiency: An Update.

Abstract excerpt

Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neurotransmitter γ-amino butyric acid (GABA). The disease is caused by impaired activity of the mitochondrial enzyme succinic semialdehyde dehydrogenase. SSADH-D manifests as varying degrees of mental retardation, autism, ataxia, and epileptic seizures, but the clinical picture is highly...

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• Amino Acid Metabolism, Inborn Errors
• Clinical Trials as Topic
• Developmental Disabilities
• Disease Models, Animal
• Enzyme Replacement Therapy