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Genetics Home Reference: your guide to understanding genetic conditions
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Short-chain acyl-CoA dehydrogenase deficiency

(often shortened to SCAD deficiency)
Reviewed November 2009

What is SCAD deficiency?

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).

Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include 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 delay, and a small head size (microcephaly).

The symptoms of SCAD deficiency may be triggered by fasting or illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe condition that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

In some people with SCAD deficiency, signs and symptoms do not appear until adulthood. These individuals are more likely to have problems related to muscle weakness and wasting.

The severity of this condition varies widely, even among members of the same family. Some individuals with SCAD deficiency never develop any symptoms of the condition.

How common is SCAD deficiency?

This disorder is thought to affect approximately 1 in 40,000 to 100,000 newborns.

What genes are related to SCAD deficiency?

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.

Mutations in the ACADS gene lead to a shortage (deficiency) of the SCAD enzyme within cells. Without sufficient amounts of this enzyme, short-chain fatty acids are not metabolized properly. As a result, these fats are not converted into energy, which can lead to the signs and symptoms of this disorder, such as lethargy, hypoglycemia, and muscle weakness. It remains unclear why some people with SCAD deficiency never develop any symptoms.

Related Gene(s)

Changes in this gene are associated with short-chain acyl-CoA dehydrogenase deficiency.

  • ACADS

How do people inherit SCAD 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 diagnosis or management of SCAD deficiency?

These resources address the diagnosis or management of SCAD deficiency and may include treatment providers.

  • Baby's First Test (http://www.babysfirsttest.org/newborn-screening/conditions/short-chain-acyl-coa-dehydrogenase-deficiency)
  • Gene Review: Short-Chain Acyl-CoA Dehydrogenase Deficiency (http://www.ncbi.nlm.nih.gov/books/NBK63582)
  • Genetic Testing Registry: Deficiency of butyryl-CoA dehydrogenase (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0342783)
  • MedlinePlus Encyclopedia: Newborn Screening Tests (http://www.nlm.nih.gov/medlineplus/ency/article/007257.htm)

You might also find information on the diagnosis or management of SCAD deficiency in Educational resources (http://www.ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about SCAD deficiency?

You may find the following resources about SCAD 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.

What other names do people use for SCAD deficiency?

  • ACADS deficiency
  • deficiency of butyryl-CoA dehydrogenase
  • lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency
  • SCADH deficiency
  • short-chain acyl-coenzyme A dehydrogenase deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about SCAD deficiency?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding SCAD deficiency?

acids ; aciduria ; autosomal ; autosomal recessive ; carnitine ; cell ; CoA ; coenzyme A ; deficiency ; dehydrogenase ; developmental delay ; enzyme ; failure to thrive ; fasting ; fatty acids ; gene ; hypoglycemia ; hypotonia ; inherited ; lethargy ; lipid ; microcephaly ; muscle tone ; newborn screening ; recessive ; screening ; syndrome ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Amendt BA, Greene C, Sweetman L, Cloherty J, Shih V, Moon A, Teel L, Rhead WJ. Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest. 1987 May;79(5):1303-9. (http://www.ncbi.nlm.nih.gov/pubmed/3571488?dopt=Abstract)
  • Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1995 Jun;126(6):910-5. (http://www.ncbi.nlm.nih.gov/pubmed/7776094?dopt=Abstract)
  • Bok LA, Vreken P, Wijburg FA, Wanders RJ, Gregersen N, Corydon MJ, Waterham HR, Duran M. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics. 2003 Nov;112(5):1152-5. (http://www.ncbi.nlm.nih.gov/pubmed/14595061?dopt=Abstract)
  • Gregersen N, Andresen BS, Bross P. Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations. Eur J Pediatr. 2000 Dec;159 Suppl 3:S213-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11216903?dopt=Abstract)
  • Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat. 2001 Sep;18(3):169-89. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11524729?dopt=Abstract)
  • Gregersen N, Andresen BS, Pedersen CB, Olsen RK, Corydon TJ, Bross P. Mitochondrial fatty acid oxidation defects--remaining challenges. J Inherit Metab Dis. 2008 Oct;31(5):643-57. doi: 10.1007/s10545-008-0990-y. Epub 2008 Oct 7. (http://www.ncbi.nlm.nih.gov/pubmed/18836889?dopt=Abstract)
  • Jethva R, Bennett MJ, Vockley J. Short-chain acyl-coenzyme A dehydrogenase deficiency. Mol Genet Metab. 2008 Dec;95(4):195-200. doi: 10.1016/j.ymgme.2008.09.007. Epub 2008 Nov 5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18977676?dopt=Abstract)
  • Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK Jr, An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res. 2003 Aug;54(2):219-23. Epub 2003 May 7. (http://www.ncbi.nlm.nih.gov/pubmed/12736383?dopt=Abstract)
  • Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matern D. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. Mol Genet Metab. 2003 Apr;78(4):239-46. (http://www.ncbi.nlm.nih.gov/pubmed/12706374?dopt=Abstract)
  • Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4. (http://www.ncbi.nlm.nih.gov/pubmed/18523805?dopt=Abstract)
  • Waisbren SE, Levy HL, Noble M, Matern D, Gregersen N, Pasley K, Marsden D. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Mol Genet Metab. 2008 Sep-Oct;95(1-2):39-45. doi: 10.1016/j.ymgme.2008.06.002. Epub 2008 Aug 3. (http://www.ncbi.nlm.nih.gov/pubmed/18676165?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2009
Published: December 16, 2014