The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population

J Inherit Metab Dis. 2010 Oct;33(5):513-20. doi: 10.1007/s10545-010-9115-5. Epub 2010 Jun 8.


Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common fatty acid oxidation disorder. Typically, undiagnosed individuals are asymptomatic until an episode of increased energy demand and fasting occurs, resulting in metabolic derangement. Phenotypic heterogeneity has been increasingly realized, with reports of both neonates and adults manifesting with life-threatening symptoms including encephalopathy, rhabdomyolysis, and cardiac failure. If diagnosed presymptomatically, outcome is favorable basically by avoidance of fasting. Early detection by newborn screening (NBS) has significantly reduced the incidence of severe adverse events including deaths. In this manuscript we focus on the natural course of the disease in both children and adults. Although NBS for MCADD has been successfully established, continuing efforts need to be made to avoid acute crises and deterioration of outcome in screened patients entering adolescence and adulthood.

Publication types

  • Review

MeSH terms

  • Acyl-CoA Dehydrogenase / deficiency
  • Acyl-CoA Dehydrogenase / genetics
  • Adolescent
  • Adult
  • Age Factors
  • Child
  • Child, Preschool
  • Disease Progression
  • Fatty Acids / metabolism*
  • Genetic Testing
  • Genotype
  • Humans
  • Infant
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / complications
  • Lipid Metabolism, Inborn Errors / diagnosis
  • Lipid Metabolism, Inborn Errors / enzymology
  • Lipid Metabolism, Inborn Errors / genetics
  • Mitochondria / enzymology*
  • Mitochondrial Diseases / complications*
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / enzymology
  • Mitochondrial Diseases / genetics
  • Neonatal Screening
  • Oxidation-Reduction
  • Phenotype
  • Prognosis
  • Young Adult


  • Fatty Acids
  • Acyl-CoA Dehydrogenase

Supplementary concepts

  • Medium chain acyl CoA dehydrogenase deficiency