Table 4.

Succinic Semialdehyde Dehydrogenase Deficiency: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability /
Neurobehavioral/
psychiatric issues 		See Developmental Delay / Intellectual Disability Management Issues.
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Valproate is avoided when possible because of inhibition of potential residual enzymatic activity. However, it may be considered in circumstances such as drug-resistant generalized spike-wave EEG pattern when other ASMs are ineffective. 1, 2
  • Vigabatrin is not generally recommended as an ASM for persons w/SSADH deficiency. 1, 2
  • Ketogenic diet is not clearly indicated as standard therapy in persons w/SSADH deficiency; however, if adherence is possible, it is not contraindicated & may be attempted. 1
  • Education of parents/caregivers 3
Ataxia /
Movement disorder 		Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices, disability parking placard.
Sleep disturbance Standard treatment per sleep medicine specialist
Transition to adult care Develop realistic plans for adult life (see American Epilepsy Society Transitions from Pediatric Epilepsy to Adult Epilepsy Care).Starting by age ~10 yrs
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy

1.
2.
3.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: Succinic Semialdehyde Dehydrogenase Deficiency

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