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Xu, C. Isobutyryl-CoA Dehydrogenase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4209 (accessed on 29 September 2026).
Xu C. Isobutyryl-CoA Dehydrogenase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4209. Accessed September 29, 2026.
Xu, Camila. "Isobutyryl-CoA Dehydrogenase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4209 (accessed September 29, 2026).
Xu, C. (2020, December 23). Isobutyryl-CoA Dehydrogenase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4209
Xu, Camila. "Isobutyryl-CoA Dehydrogenase Deficiency." Encyclopedia. Web. 23 December, 2020.
Isobutyryl-CoA Dehydrogenase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/isobutyryl-coa-dehydrogenase-deficiency

Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the breakdown of certain proteins.

genetic conditions

References

  1. 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-carnitinedetected by tandem mass spectrometry newborn screening. Pediatr Res. 2003Aug;54(2):219-23.
  2. 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 ofisobutyryl-CoA dehydrogenase and its deficiency in humans. Mol Genet Metab. 2002 Sep-Oct;77(1-2):68-79.
  3. Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, CharrowJ, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH,Matern D. Development of a newborn screening follow-up algorithm for thediagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med. 2007Feb;9(2):108-16.
  4. Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, KoeberlDD, 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 withelevated C4-carnitine detected by tandem mass spectrometry newborn screening.Pediatr Res. 2006 Sep;60(3):315-20.
  5. Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L. Isolatedisobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valinemetabolism. Mol Genet Metab. 1998 Dec;65(4):264-71.
  6. Sass JO, Sander S, Zschocke J. Isobutyryl-CoA dehydrogenase deficiency:isobutyrylglycinuria and ACAD8 gene mutations in two infants. J Inherit MetabDis. 2004;27(6):741-5.
  7. Yoo EH, Cho HJ, Ki CS, Lee SY. Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening.Clin Chem Lab Med. 2007;45(11):1495-7.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 623
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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