Reviewed July 2006
What is short-chain acyl-coenzyme A dehydrogenase deficiency?
Short-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (SCAD) is a rare condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting). People with this disorder are not able to break down a certain group of fats called short-chain fatty acids efficiently. Some affected infants will exhibit vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), seizures, developmental delays, and a small head size (microcephaly). The symptoms of short-chain acyl-CoA dehydrogenase deficiency may be triggered by periods of fasting or during illnesses such as viral infections. In some cases, signs and symptoms may not appear until adulthood, when some individuals may develop muscle weakness and wasting. Other people with gene mutations that can cause this disorder may have such mild symptoms that they are never diagnosed.
How common is short-chain acyl-coenzyme A dehydrogenase deficiency?
This disorder is thought to affect approximately 1 in 40,000 to 100,000 newborns.
What genes are related to short-chain acyl-coenzyme A dehydrogenase deficiency?
Mutations in the ACADS gene cause short-chain acyl-coenzyme A dehydrogenase deficiency.
Mutations in the ACADS gene lead to inadequate levels of an enzyme called short-chain acyl-CoA dehydrogenase. This enzyme is important for the breakdown of short-chain fatty acids. Reduced levels of this enzyme prevent short-chain fatty acids from being further broken down and processed in the mitochondria (the energy-producing centers inside cells). As a result, these short-chain fatty acids are not converted into energy, which can lead to the signs and symptoms of this disorder, such as lethargy and hypoglycemia.
Read more about the ACADS gene.
How do people inherit short-chain acyl-coenzyme A dehydrogenase deficiency?
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.
Where can I find information about treatment for short-chain acyl-coenzyme A dehydrogenase deficiency?
These resources address the management of short-chain acyl-coenzyme A dehydrogenase deficiency and may include treatment providers.
You might also find information on treatment of short-chain acyl-coenzyme A dehydrogenase deficiency in
Educational resources and Patient support.
Where can I find additional information about short-chain acyl-coenzyme A dehydrogenase deficiency?
You may find the following resources about short-chain acyl-coenzyme A dehydrogenase deficiency helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
- Gene Tests - DNA tests ordered by healthcare professionals
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- PubMed - Recent literature
- Online Books - Medical and science texts
- OMIM - Genetic disorder catalog
What other names do people use for short-chain acyl-coenzyme A dehydrogenase deficiency?
- ACADS deficiency
- lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency
- SCAD deficiency
- SCADH deficiency
- short-chain acyl-CoA dehydrogenase deficiency
What if I still have specific questions about short-chain acyl-coenzyme A dehydrogenase deficiency?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding short-chain acyl-coenzyme A dehydrogenase deficiency?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.