Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Pediatrics. 2021 Jan;147(1):e2020040303. doi: 10.1542/peds.2020-040303.

Abstract

Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a fatty acid oxidation disorder in which the patient is unable to break down fats to produce energy. This disorder places children at risk for metabolic decompensation during periods of stress, such as routine childhood illnesses. The intent of this clinical report is to provide pediatricians with additional information regarding the acute clinical care of patients with MCADD. Although each patient with MCADD will still be expected to have a primary metabolic physician, the involvement of the primary care provider is crucial as well. Appropriate treatment of children with MCADD can lead to avoidance of morbidity and mortality.

MeSH terms

  • Acyl-CoA Dehydrogenase / deficiency*
  • Carnitine / therapeutic use
  • Child
  • Emergencies
  • Fluid Therapy
  • Glucose / administration & dosage
  • Humans
  • Hypoglycemia / etiology
  • Hypoglycemia / therapy
  • Intraoperative Complications / prevention & control
  • Lipid Metabolism, Inborn Errors / complications
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Lipid Metabolism, Inborn Errors / therapy*
  • Postoperative Complications / prevention & control
  • Premedication
  • Sweetening Agents / administration & dosage

Substances

  • Sweetening Agents
  • Acyl-CoA Dehydrogenase
  • Glucose
  • Carnitine

Supplementary concepts

  • Medium chain acyl CoA dehydrogenase deficiency