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HomePediatrics: Genetics and Metabolic DiseaseMedium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD)

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD)

Background

The study of fatty acid metabolism gained importance during the 1970s when investigators and clinicians recognized patients who appeared to have genetic defects in this area. In 1973, carnitine palmitoyltransferase (CPT) deficiency became the first fatty acid metabolism condition to be defined. With attention focused on the definition of additional disorders, researchers described patients with a Reye syndrome–like presentation who excreted dicarboxylic acids of chain lengths C6-C10 in their urine.

In 1976, Gregersen and colleagues described a patient with similar findings and theorized that a beta-oxidation defect was responsible; thus, expectations were raised that this type of defect would soon be identified.
By 1982, at least 2 reports of patients thought to suffer from defects in beta-oxidation were published. In 1983, Gregersen et al demonstrated a medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency in a patient with hypoketotic hypoglycemia.
Stanley and colleagues described several children with similar clinical presentations who were MCAD deficient and confirmed the demonstration in the same year.

The clinical entity known as MCAD deficiency was biochemically defined less than 35 years ago; however, some believe the condition to be at least as common in newborns as phenylketonuria, with an incidence approximating 1 per every 12,000 live births. A recent report from Europe indicates an incidence in Bavaria of 1:8456 in more than 500,000 newborns screened.

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