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Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Jerry Vockley, MD, PhD, Professor of Pediatrics and Human Genetics, University of Pittsburgh and Chief of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, for assistance in the preparation of this report.

Synonyms of Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)

  • acyl-CoA dehydrogenase deficiency, short-chain
  • lipid-storage myopathy associated with SCAD deficiency
  • SCAD deficiency
  • SCAD deficiency, adult-onset (localized)
  • SCAD deficiency, congenital (generalized)
  • SCADH deficiency

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Short chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare autosomal recessive genetic disorder of fatty acid catabolism belonging to a group of diseases known as fatty acid oxidation disorders (FOD). It occurs because of a deficiency of the short-chain acyl-CoA dehydrogenase (SCAD) enzyme.

Although SCAD was initially thought to produce severe problems including progressive muscle weakness, hypotonia, acidemia, developmental delay, and even early death, it is now believed that this disorder is both more common and less severe in many cases than originally thought at the time of its discovery 20 years ago. Since the advent of expanded newborn screening programs using tandem mass spectrometry technology, many more SCAD infants are being detected, many of whom are well and asymptomatic.

When symptoms are present, they are variable, ranging from severe, neonatal acidosis to mild developmental delay with hypotonia.

Organizations related to Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)

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