Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with SLC25A19-Related Thiamine Metabolism Dysfunction

System/ConcernEvaluationComment
Neurologic
  • Neurologic eval
  • Urine organic acids
  • To incl brain MRI
  • Consider EEG if seizures are a concern.
  • Consider serum lactate & blood gas.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Gastrointestinal/
Feeding 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of SLC25A19 deficiency to facilitate medical & personal decision making
Family support
& resources 		Assess need for:
1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: SLC25A19-Related Thiamine Metabolism Dysfunction

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