Table 9.

Propionic Acidemia: Prevention of Secondary Manifestations

Manifestation/SituationInterventionConsiderations/Other
Acute metabolic crisis
  • Education of affected persons & caregivers re natural history, maintenance & emergency treatment, prognosis, & risks of acute metabolic crises
  • Treatment protocols & provision of emergency letters or cards to incl guidance for care in event of illness while traveling
  • MedicAlert® bracelets/pendants or car seat stickers
  • Adequate supplies of specialized dietary products (carbohydrate-only formulas or other caloric sources), specialized amino acid formula, & medication required for maintenance & emergency treatment (carnitine, antipyretics) should always be maintained at home & during travel.
  • Written protocols for maintenance & emergency treatment should be provided to parents & primary care providers / pediatricians, & to teachers & school staff. 1
  • Emergency letters/cards should be provided summarizing key info & principles of emergency treatment for PA & containing contact info for primary treating metabolic center.
  • For any planned travel or vacations, consider contacting a 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. 2
  • Emergency surgeries & elective procedures require input from physicians w/expertise in inherited metabolic diseases (w/respect to perioperative fluid & nutritional mgmt).
Consider placing a "flag" in affected person's medical record such that all care providers are aware of diagnosis & need to solicit opinions & guidance from designated metabolic specialists in the setting of certain procedures.
Acrodermatitis enteropathica, hair loss, & cutaneous Candida infections
  • Reassessment of dietary therapy to identify essential amino acid deficiencies or other vitamin or mineral deficiencies
  • Rule out iatrogenic overrestriction of essential amino acid intake.
1.

Essential information including written treatment protocols should be provided before inpatient emergency treatment might be necessary.

2.

Perioperative/perianesthetic management precautions may include visitations at specialist anesthetic clinics for affected individuals deemed to be at high risk for perioperative complications (see www​.orphananesthesia.eu [pdf]).

From: Propionic Acidemia

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