Table 5.

Recommended Surveillance for Individuals with SLC25A19-Related Thiamine Metabolism Dysfunction

System/ConcernEvaluationFrequency
Neurologic Assess for new seizures or changes in seizures, changes in tone, movement disorders.Every 6 mos
Development Monitor developmental progress & educational needs.At each visit
Feeding
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skills
Family/Community Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

OT = occupational therapy; PT = physical therapy

From: SLC25A19-Related Thiamine Metabolism Dysfunction

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