Table 8. [Prevention of Secondary Manifestations in...]. - GeneReviews®

Manifestation/ Situation	Prevention	Considerations/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.

Manifestation/
Situation

Prevention

Considerations/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.

From: Carnitine-Acylcarnitine Translocase Deficiency

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