Table 8.

Prevention of Secondary Manifestations in Individuals with Carnitine-Acylcarnitine Translocase (CACT) Deficiency

Manifestation/
Situation		PreventionConsiderations/Other
Acute
encephalopathic
crisis
  • Intensive & ongoing education of affected persons & caregivers re natural history, maintenance & emergency treatment, prognosis, & risks of acute encephalopathic crises
  • Treatment protocols & provision of emergency letters or cards to incl guidance for care in the event of illness while on vacation
  • MediAlert bracelets/pendants, or car seat stickers
  • Adequate supplies of specialized dietary products (carbohydrate-only formulas or other caloric sources); maintain medication required for maintenance & emergency treatment (carnitine, antipyretics) at home.
  • Provide written protocols for maintenance & emergency treatment to parents & primary care providers/pediatricians, teachers, & school staff. 1, 2
  • Provide emergency letters/cards summarizing key information & principles of emergency treatment for CACT deficiency & incl contact info for primary treating metabolic center.
  • For any planned travel or vacations, consider contacting a center of expertise near the destination prior to travel.
Surgery or
procedure
(incl dental
procedures)
  • Notify designated metabolic center in advance of procedure to discuss perioperative mgmt w/surgeons & anesthesiologists. 3
  • Emergency surgeries/procedures require planning input from physicians w/expertise in inherited metabolic diseases (w/respect to perioperative fluid & nutritional management).
Consider placing a "flag" in affected person's medical record so that all care providers are aware of the diagnosis & the need to solicit opinions & guidance from designated metabolic specialists in the setting of certain procedures.
1.

Essential information including written treatment protocols should be in place in anticipation of possible future need for inpatient emergency treatment.

2.

Parents or local hospitals should immediately inform the designated metabolic center if: (1) temperature rises >38.5°C (101°F); (2) vomiting/diarrhea or other symptoms of intercurrent illness develop; or (3) new neurologic symptoms appear.

3.

Perioperative/perianesthetic management precautions may include visitations at specialist anesthetic clinics for affected individuals deemed to be at high risk for perioperative complications.

From: Carnitine-Acylcarnitine Translocase Deficiency

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