Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).
Mutations in the ACADS gene cause SCAD deficiency. This gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called short-chain fatty acids. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.
This disorder is thought to affect approximately 1 in 35,000 to 50,000 newborns.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Niels Gregersen practices in Kongens Lyngby, Denmark. Gregersen is rated as a Distinguished expert by MediFind in the treatment of Short-Chain Acyl-CoA Dehydrogenase Deficiency. He is also highly rated in 9 other conditions, according to our data. His top areas of expertise are Short-Chain Acyl-CoA Dehydrogenase Deficiency, Glutaric Acidemia Type 2, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, and Neurohypophyseal Diabetes Insipidus.
Ronald Wanders practices in Amsterdam, Netherlands. Wanders is rated as a Distinguished expert by MediFind in the treatment of Short-Chain Acyl-CoA Dehydrogenase Deficiency. He is also highly rated in 40 other conditions, according to our data. His top areas of expertise are Refsum Disease, Adrenoleukodystrophy, Zellweger Syndrome, and Peroxisomal Acyl-CoA Oxidase Deficiency.
Narayanappa Gayathri practices in Bengaluru, India. Gayathri is rated as a Distinguished expert by MediFind in the treatment of Short-Chain Acyl-CoA Dehydrogenase Deficiency. They are also highly rated in 15 other conditions, according to our data. Their top areas of expertise are Short-Chain Acyl-CoA Dehydrogenase Deficiency, Giant Axonal Neuropathy, Dysferlinopathy, and MELAS Syndrome.
Published Date: May 01, 2015Published By: National Institutes of Health
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