Table 6.

FOLR1-Related Cerebral Folate Transport Deficiency: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Seizures
  • Standardized treatment with ASMs by experienced neurologists
  • 5-formylTHF is essential & generally decreases frequency of seizures. In some persons, ASMs can be discontinued when optimal 5-formylTHF dose is achieved (see Table 5).
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • CSF folate levels must be monitored closely to ensure that age-relevant physiologic levels are achieved w/5-formylTHF treatment & that there is reliable ongoing adherence.
  • Education of parents/caregivers 1
Movement disorders Assistance of specialists in physical medicine & rehab &/or PT is advised.Monitor the CSF folate level as necessary to ensure that therapeutic CSF folate levels are sustained, & an optimal therapeutic outcome has been achieved. 1
Behavior issues Assistance of psychosocial support is advisable.
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
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.

5-formylTHF = 5-formyltetrahydrofolate; ASM = anti-seizure medication; CSF = cerebrospinal fluid; OT = occupational therapy; PT = physical therapy

1.

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: FOLR1-Related Cerebral Folate Transport Deficiency

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