Table 4.

Treatment of Manifestations in Individuals with SLC25A19-Related Thiamine Metabolism Dysfunction

Manifestation/ConcernTreatmentConsiderations/Other
Acute encephalopathic episodes
  • May require admission to ICU to manage seizures & ↑ intracranial pressure.
  • ↑ thiamine to 2x the daily dose (up to 1,500 mg daily); can administer thiamine intravenously.
Epilepsy
  • Standardized treatment w/ASM by experienced neurologist.
  • The few children w/Amish lethal microcephaly who were treated responded well to phenobarbital.
  • Many ASMs may be effective.
  • Valproate must be avoided.
  • Education of parents/caregivers 1
Dystonia Symptomatic treatment incl administration of trihexyphenidyl or L-dopa
Spasticity
  • Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & falls
  • Infants w/Amish lethal microcephaly have responded to benzodiazepine anxiolytics.
Consider need for positioning & mobility devices, disability parking placard.
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Infection/Fever Routine childhood illnesses should be managed to minimize acidosis assoc w/acute illnesses.
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.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics in survivors.

From: SLC25A19-Related Thiamine Metabolism Dysfunction

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