Succinic semialdehyde dehydrogenase deficiency

Definition:

Succinic semialdehyde dehydrogenase (SSADH) deficiency, also known as 4-hydroxybutyric aciduria (4-HBA), is an autosomal recessive inborn error of metabolism. Clinical features include intellectual disability with prominent deficits in expressive language, hypotonia, nonprogressive ataxia, and hyporeflexia. The causative gene is aldehyde dehydrogenase 5 family, member A1 (ALDH5A1) encoding SSADH. SSADH is deficient in affected individuals impairing the formation of succinic acid from succinic semialdehyde and leading to the increased production of 4-HBA.

References:

[1]. Michael A Kayser, et al. Inherited metabolic diseases in neurodevelopmental and neurobehavioral disorders. Semin Pediatr Neurol. 2008 Sep;15(3):127-31. [Content Brief]

[2]. P L Pearl, et al. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis. 2009 Jun;32(3):343-52. [Content Brief]

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