
Genetics House Reference: ACAD9 deficiency
Aintablian HK, Narayanan V, Belnap N, Ramsey Okay, Grebe TA. An extraordinary presentation of ACAD9 deficiency: Analysis by way of complete exome sequencing broadens the phenotypic spectrum and alters remedy manner. Mol Genet Metab Rep. 2016 Dec 29;10:38-44. doi: 10.1016/j.ymgmr.2016.12.005. eCollection 2017 Mar.
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, Rötig A. Prime occurrence and variable scientific end result of cardiac hypertrophy because of ACAD9 mutations in adolescence. Eur J Hum Genet. 2016 Aug;24(eight):1112-6. doi: 10.1038/ejhg.2015.264. Epub 2015 Dec 16.
Dewulf JP, Barrea C, Vincent MF, De Laet C, Van Coster R, Seneca S, Marie S, Nassogne MC. Proof of a large spectrum of cardiac involvement because of ACAD9 mutations: Record on 9 sufferers. Mol Genet Metab. 2016 Jul;118(three):185-Nine. doi: 10.1016/j.ymgme.2016.05.005. Epub 2016 Might 13.
Gerards M, van den Bosch BJ, Danhauser Okay, Serre V, van Weeghel M, Wanders RJ, Nicolaes GA, Sluiter W, Schoonderwoerd Okay, Scholte HR, Prokisch H, Rötig A, de Coo IF, Smeets HJ. Riboflavin-responsive oxidative phosphorylation complicated I deficiency brought about by way of faulty ACAD9: new serve as for an previous gene. Mind. 2011 Jan;134(Pt 1):210-Nine. doi: 10.1093/mind/awq273. Epub 2010 Oct 7.
Haack TB, Danhauser Okay, 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 sequencing identifies ACAD9 mutations as a explanation for complicated I deficiency. Nat Genet. 2010 Dec;42(12):1131-Four. doi: 10.1038/ng.706. Epub 2010 Nov 7.
Nouws J, Nijtmans L, Houten SM, van den Logo M, Huynen M, Venselaar H, Hoefs S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van den Heuvel L, Smeitink J, Vogel RO. Acyl-CoA dehydrogenase Nine is needed for the biogenesis of oxidative phosphorylation complicated I. Mobile Metab. 2010 Sep eight;12(three):283-94. doi: 10.1016/j.cmet.2010.08.002.
Nouws J, Te Brinke H, Nijtmans LG, Houten SM. ACAD9, a fancy I meeting issue with a moonlighting serve as in fatty acid oxidation deficiencies. Hum Mol Genet. 2014 Mar 1;23(Five):1311-Nine. doi: 10.1093/hmg/ddt521. Epub 2013 Oct 24.
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. Complicated I meeting serve as and fatty acid oxidation enzyme job of ACAD9 each give a contribution to illness severity in ACAD9 deficiency. Hum Mol Genet. 2015 Jun 1;24(11):3238-47. doi: 10.1093/hmg/ddv074. Epub 2015 Feb 26.
Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A, Holinski-Feder E, Augustis S. Lifetime workout intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations inflicting complicated I deficiency. Neuromuscul Disord. 2017 Feb 14. pii: S0960-8966(16)30821-Five. doi: 10.1016/j.nmd.2017.02.005. [Epub ahead of print]