The primary care physician’s treatment of children with a fatty acid oxidation disorder is crucial to avoid morbidity and mortality.
In medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD), patients are unable to break down fats to produce energy. Routine childhood illnesses such as gastroenteritis can place them at risk for metabolic decompensation.
A new AAP clinical report reviews pediatricians’ role in the acute care of MCADD and includes guidance on emergency, perioperative and trauma management of these patients.
Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency,from the AAP Council on Genetics, is available at https://doi.org/10.1542/peds.2020-040303 and will be published in the January issue of Pediatrics.
The report recommends starting intravenous (IV) fluids with at least 10% dextrose solution if a child appears to have hypoglycemia. In addition, those who can’t immediately resume a regular diet need IV fluids with at least a 10% dextrose solution at 1.5 times the maintenance rate until typical oral intake is resumed.
If a patient has reason to visit the emergency department, he or she requires immediate triage and medical attention.
Children with MCADD may appear normal at birth and typically present symptoms when they are 2 months to 2 years of age. Many of the symptoms — such as vomiting, lethargy and seizures — are a result of the ensuing hypoketotic hypoglycemia, and if not treated properly and promptly, can progress rapidly to coma and death.
MCADD affects one in 13,000-19,000 people in the U.S. In addition to their pediatrician, many of these patients have a metabolic specialist responsible for their care. Parents are told to monitor their children carefully, especially during illnesses.
All U.S. newborn screening programs screen for MCADD. Before the disease was included in screening panels, up to 18% of patients could die with their first routine illness.
