Most management of succinic semialdehyde dehydrogenase deficiency is symptomatic, with the goal of treating seizures and neurobehavioral abnormalities. This illness has been treated with a wide range of antiepileptic medications.
1. While vigabatrin is a permanent inhibitor of GABA-transaminase and hence suppresses the synthesis of succinic semialdehyde, its efficacy in treating seizures linked with SSADH deficiency has been variable.
2. Methylphenidate, thioridazine, risperdal, fluoxetine, and benzodiazepines have all been used to treat anxiety, aggression, and inattention.
3. Physical and occupational therapy, sensory integration, nutrition, and/or speech therapy are examples of non-pharmacologic treatments.
4. Surveillance: As needed, regular neurologic and developmental examinations.
5. Agents and situations to avoid: Valproate may suppress residual SSADH enzyme activity; nonetheless, in patients with refractory epilepsy who have exhausted previous therapies, valproate may be considered.
6. Genetic counseling
SSADH deficiency is transmitted autosomally recessive. Each affected individual's sib has a 25% chance of being affected, a 50% risk of being an asymptomatic carrier, and a 25% risk of being unaffected and not a carrier at conception. If the pathogenic mutations have been discovered in the family, at-risk relatives can be tested for carriers. For carrier determination, biochemical testing is neither accurate nor dependable. Prenatal testing for a high-risk pregnancy is feasible by molecular genetic testing if pathogenic mutations have been detected in the family, or through biochemical analysis (either measurement of 4-hydroxybutyric acid in amniotic fluid.
Delayed gross motor development,Delayed mental development,Delayed fine motor skill development,Delayed speech and language development,Hypotonia