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Yang, C. ACAD9 Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4274 (accessed on 28 September 2026).
Yang C. ACAD9 Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4274. Accessed September 28, 2026.
Yang, Catherine. "ACAD9 Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4274 (accessed September 28, 2026).
Yang, C. (2020, December 23). ACAD9 Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4274
Yang, Catherine. "ACAD9 Deficiency." Encyclopedia. Web. 23 December, 2020.
ACAD9 Deficiency
Edit

ACAD9 deficiency is a condition that varies in severity and can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of a chemical called lactic acid in the body (lactic acidosis). Additional signs and symptoms that affect other body systems occur in rare cases.

genetic conditions

References

  1. Aintablian HK, Narayanan V, Belnap N, Ramsey K, Grebe TA. An atypicalpresentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadensthe phenotypic spectrum and alters treatment approach. Mol Genet Metab Rep. 2016 Dec 29;10:38-44. doi: 10.1016/j.ymgmr.2016.12.005.
  2. Collet M, Assouline Z, Bonnet D, Rio M, Iserin F, Sidi D, Goldenberg A,Lardennois C, Metodiev MD, Haberberger B, Haack T, Munnich A, Prokisch H, RötigA. High incidence and variable clinical outcome of cardiac hypertrophy due toACAD9 mutations in childhood. Eur J Hum Genet. 2016 Aug;24(8):1112-6. doi:10.1038/ejhg.2015.264.
  3. Dewulf JP, Barrea C, Vincent MF, De Laet C, Van Coster R, Seneca S, Marie S,Nassogne MC. Evidence of a wide spectrum of cardiac involvement due to ACAD9mutations: Report on nine patients. Mol Genet Metab. 2016 Jul;118(3):185-9. doi: 10.1016/j.ymgme.2016.05.005.
  4. Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders RJ, Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rötig A, de CooIF, Smeets HJ. Riboflavin-responsive oxidative phosphorylation complex Ideficiency caused by defective ACAD9: new function for an old gene. Brain. 2011Jan;134(Pt 1):210-9. doi: 10.1093/brain/awq273.
  5. Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G,Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T,Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H. Exome sequencingidentifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet. 2010Dec;42(12):1131-4. doi: 10.1038/ng.706.
  6. Nouws J, Nijtmans L, Houten SM, van den Brand M, Huynen M, Venselaar H, Hoefs S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van denHeuvel L, Smeitink J, Vogel RO. Acyl-CoA dehydrogenase 9 is required for thebiogenesis of oxidative phosphorylation complex I. Cell Metab. 2010 Sep8;12(3):283-94. doi: 10.1016/j.cmet.2010.08.002.
  7. Nouws J, Te Brinke H, Nijtmans LG, Houten SM. ACAD9, a complex I assemblyfactor with a moonlighting function in fatty acid oxidation deficiencies. Hum MolGenet. 2014 Mar 1;23(5):1311-9. doi: 10.1093/hmg/ddt521.
  8. Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R,Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Häberle J,Munnich A, Rötig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J.Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9both contribute to disease severity in ACAD9 deficiency. Hum Mol Genet. 2015 Jun 1;24(11):3238-47. doi: 10.1093/hmg/ddv074.
  9. Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A,Holinski-Feder E, Augustis S. Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causingcomplex I deficiency. Neuromuscul Disord. 2017 May;27(5):473-476. doi:10.1016/j.nmd.2017.02.005.
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Update Date: 23 Dec 2020
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