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ACAD8 gene
URL of this page: https://medlineplus.gov/genetics/gene/acad8/

ACAD8 gene

acyl-CoA dehydrogenase family member 8

Normal Function

The ACAD8 gene provides instructions for making an enzyme called isobutyryl-CoA dehydrogenase (IBD). This enzyme is found in mitochondria, the energy-producing centers inside cells. The IBD enzyme is involved in breaking down proteins from food. Specifically, this enzyme is responsible for the third step in the breakdown of a protein building block (amino acid) called valine. The IBD enzyme converts a molecule called isobutyryl-CoA into a molecule called methacrylyl-CoA. Other enzymes further break down methacrylyl-CoA into molecules that cells can use for energy.

Health Conditions Related to Genetic Changes

Isobutyryl-CoA dehydrogenase deficiency

Variants (also called mutations) in the ACAD8 gene have been found to cause IBD deficiency. People with IBD deficiency cannot effectively break down valine. Normally, proteins from food are broken down into amino acids, which are further processed to provide energy for growth and development. IBD deficiency disrupts this process. Most people with IBD deficiency do not have any signs or symptoms of the condition. If signs or symptoms do appear, they typically show up early in life and only last for a short period of time.

The ACAD8 gene variants that cause IBD deficiency reduce or eliminate the activity of the IBD enzyme. As a result, isobutyryl-CoA is not converted to methacrylyl-CoA and the breakdown of valine is impaired. An inability to process valine may reduce energy production, and some people may develop health problems related to IBD deficiency.

More About This Health Condition

Other Names for This Gene

  • ACAD-8
  • ACAD8_HUMAN
  • Activator-recruited cofactor 42 kDa component
  • acyl-CoA dehydrogenase family, member 8
  • acyl-coenzyme A dehydrogenase 8
  • ARC42
  • FLJ22590

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Feng J, Yang C, Zhu L, Zhang Y, Zhao X, Chen C, Chen QX, Shu Q, Jiang P, Tong F. Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8. Orphanet J Rare Dis. 2021 Sep 20;16(1):392. doi: 10.1186/s13023-021-02018-6. Citation on PubMed
  • 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. doi: 10.1203/01.PDR.0000074972.36356.89. Epub 2003 May 7. Citation on PubMed
  • Lin Y, Peng W, Jiang M, Lin C, Lin W, Zheng Z, Li M, Fu Q. Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency. Clin Chim Acta. 2018 Dec;487:133-138. doi: 10.1016/j.cca.2018.09.033. Epub 2018 Sep 22. Citation on PubMed
  • Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Mol Genet Metab. 2002 Sep-Oct;77(1-2):68-79. doi: 10.1016/s1096-7192(02)00152-x. Citation on PubMed
  • Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med. 2007 Feb;9(2):108-16. doi: 10.1097/gim.0b013e31802f78d6. Citation on PubMed
  • Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res. 2006 Sep;60(3):315-20. doi: 10.1203/01.pdr.0000233085.72522.04. Epub 2006 Jul 20. Citation on PubMed
  • Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L. Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol Genet Metab. 1998 Dec;65(4):264-71. doi: 10.1006/mgme.1998.2758. Citation on PubMed
  • Zhang Z, Sun Y, Wang YY, Ma DY, Wang X, Cheng W, Jiang T. Retrospective analysis of isobutyryl CoA dehydrogenase deficiency. Minerva Pediatr (Torino). 2024 Oct;76(5):645-651. doi: 10.23736/S2724-5276.21.06179-6. Epub 2021 Oct 14. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.