Table 6.

Emergency Outpatient Treatment in Individuals with LCHAD/TFP Deficiency

Manifestation/
Concern		TreatmentConsiderations/Other
Metabolic
decompensation /
Hypoglycemia 1
  • ↓ fasting interval by 1/2 of non-sick-day duration.
  • Encourage intake of sugary drinks (e.g., Gatorade™, juice).
See Table 6 for recommended maximal fasting intervals at baseline.
Fever Administration of antipyretics (acetaminophen, ibuprofen) if temperature rises >38.5° C
  • If there is ↓ oral intake, vomiting, or lethargy, start acute inpatient treatment (see Table 7).
  • Low threshold for starting inpatient mgmt for infants & young children
Occasional
vomiting 		Antiemetics 2Some classes of antiemetics can be used safely on an occasional basis to temporarily improve enteral tolerance of food & beverages at home or during transfer to hospital.

LCHAD = long-chain hydroxyacyl-CoA dehydrogenase; TFP = trifunctional protein

1.

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

2.

Avoid ondansetron and other medications known to prolong QT intervals in individuals with cardiomyopathy and/or long QT intervals.

From: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency

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