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Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)

Abstract

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

Synonyms of Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)

  • ACADL
  • nonketotic hypoglycemia caused by deficiency of acyl-CoA dehydrogenase
  • VLCAD

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a rare genetic disorder of fatty acid metabolism that is transmitted as an autosomal recessive trait. It occurs when an enzyme needed to break down certain very long-chain fatty acids is missing or not working properly. VLCAD is one of the metabolic diseases known as fatty acid oxidation (FOD) diseases. In the past, the name long-chain acyl-CoA dehydrogenase deficiency (LCAD) was applied to one such disease, but today it is clear that all cases once thought to be LCAD are actually VLCAD.

The breakdown of fatty acids takes place in the mitochondria found in each cell. The mitochondria are small, well-defined bodies that are found in the cytoplasm of cells and in which the body generates energy from the breakdown of complex substances into simpler ones (mitochondrial oxidation).

Classically, two forms of VLCAD have been described: an early-onset, severe form which, if unrecognized and undiagnosed, may lead to extreme weakness of the heart muscles (cardiomyopathy) and may be life-threatening (VLCAD-C), and a later-onset, milder form, sometimes referred to as VLCAD-H, that is characterized by repeated bouts of low blood sugar (hypoglycemia). In reality, patients may present with a combination of symptoms and the disease is best though of as being a continuum. Since the advent of expanded newborn screening programs using tandem mass spectrometry technology, most VLCAD infants in the United States are being detected neonatal period.

Organizations related to Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)

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