4-Hydroxybutiric Aciduria . Succinic semialdehyde dehydrogenase deficiency (autistic features)
Incidence
Rare. Some 30 cases known.
Clinical Characteristics
Slowly progressive. Onset from 6 mo to 11 yrs. A severe form may be manifested at birth. The late mild form presents mainly nonspecific neurological manifestations including prominent cerebellar signs such as ataxia, oculomotor dyspraxia and dysarthria. Mental retardation can be present. One severe early manifestation is hypotonia and myoclonic seizures.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
Succinic semialdehyde dehydrogenase deficiency: EB-W.