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last update : 5/02/2008
Symbol SSADH
Location 6p22.2
Name 4-hydroxybutyric aciduria
Corresponding gene ALDH5A1
Other symbol(s) ALDH5A1, 4-HBA, 4HBA
Main clinical features
  • characterized by psychomotor retardation, ataxia, hypotonia, strabismus, intermittent hyperglycemia, at the FO, retinal hypopigmentation, on MRI, cortical atrophy, with frequent abnormalities of brainstem, of pallidi and dentate nuclei
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name succinic semialdehyde dehydrogenase (SSADH)
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein