Table 8.

Prevention of Secondary Manifestations in Individuals with Citrullinemia Type I

Manifestation/
Situation		PreventionConsiderations/Other
Acute
encephalopathic
crisis
  • Intense & 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 event of illness while away from home
  • MedicAlert® bracelets/pendants, or car seat stickers
  • Adequate supplies of specialized dietary products (carbohydrate-only formulas or other caloric sources)
  • Medication required for maintenance & emergency treatment (antipyretics) should always be maintained at home.
  • Provide written protocols for maintenance & emergency treatment to parents & primary care providers / pediatricians & to teachers & school staff. 1, 2
  • Emergency letters/cards should be provided summarizing key info & principles of emergency treatment for CTLN1 & containing contact info for primary treating metabolic center.
  • For any planned travel or vacations, consider contacting center of expertise near destination prior to travel dates.
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 mgmt).
  • The night before surgery, & esp once patient is made NPO, drug treatment should be switched to IV & nutrition w/10% glucose w/age-appropriate electrolytes should be administered via IV to promote anabolism.
Consider placing "flag" in affected person's medical record so that all care providers are aware of diagnosis & need to solicit opinions & guidance from designated metabolic specialists in setting of certain procedures.

IV = intravenous; NPO = nil per os ("nothing by mouth")

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; (2) vomiting/diarrhea or other symptoms of intercurrent illness develop; or (3) new neurologic symptoms occur.

3.

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

From: Citrullinemia Type I

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