Treatment: Avoidance of fasting using frequent feeds, supplemental carbohydrates during illness, decreasing feeding intervals, to be treated like children with hypoglycemia; low-fat diet; treatment of cardiac dysfunction, peripheral neuropathy. Triheptanoin supplementation. Emergency outpatient treatment for mild decompensation includes decreasing the fasting interval, administration of antipyretics for fever.
Prevention of primary manifestations: Avoidance of fasting; dietary management; education of parents and caregivers to ensure prompt treatment;
Surveillance: Monitor nutrition, serum plasma free and total carnitine, acylcarnitine profile, creatine kinase based on age; annual comprehensive fatty acid profile; monitor growth, and development at each visit throughout childhood, indicating attainment of motor milestones; neuropsychological testing; echocardiography annually or more frequently as needed; regular neurology evaluation with EMG as needed.
Agents/circumstances to avoid: Fasting; fever; high-fat diets including ketogenic and carbohydrate-restricted diets; intravenous lipids during acute metabolic crisis.
HADHB