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.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
Congenital disorders of metabolism
Congenital disorders of amino acid metabolism
H00835 Succinic semialdehyde dehydrogenase deficiency
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H00835 Succinic semialdehyde dehydrogenase deficiency
