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Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid β-oxidation, and attenuates NLRP3 inflammasome activation.
Chokchaiwong S, Kuo YT, Lin SH, Hsu YC, Hsu SP, Liu YT, Chou AJ, Kao SH. Chokchaiwong S, et al. Free Radic Res. 2018 Dec;52(11-12):1445-1455. doi: 10.1080/10715762.2018.1500695. Epub 2018 Sep 11. Free Radic Res. 2018. PMID: 30003820
Multiple acyl-CoA dehydrogenase deficiency (MADD), an autosomal recessive metabolic disorder of fatty acid metabolism, is mostly caused by mutations in the ETFA, ETFB or ETFDH genes that result in dysfunctions in electron transfer flavoprotein ( …
Multiple acyl-CoA dehydrogenase deficiency (MADD), an autosomal recessive metabolic disorder of fatty acid me …
Abnormal fatty acid metabolism in childhood spinal muscular atrophy.
Crawford TO, Sladky JT, Hurko O, Besner-Johnston A, Kelley RI. Crawford TO, et al. Ann Neurol. 1999 Mar;45(3):337-43. doi: 10.1002/1531-8249(199903)45:3<337::aid-ana9>3.0.co;2-u. Ann Neurol. 1999. PMID: 10072048 Clinical Trial.
Nine children with chronic SMA and 23 control patients did not develop an abnormal dicarboxylic aciduria during fasting. No known disorder of fatty acid metabolism explains all of the abnormalities we find in SMA. ...
Nine children with chronic SMA and 23 control patients did not develop an abnormal dicarboxylic aciduria during fasting. No known disorde …
Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges.
Al-Busaidi SA, Al Nou'mani JA, Al-Falahi Z, Al-Farsi R, Kumar S, Al-Murshedi F, Awlad-Thani K, Al Nabhani A, Al Alawi AM. Al-Busaidi SA, et al. Clin Biochem. 2023 Jun;116:16-19. doi: 10.1016/j.clinbiochem.2023.03.005. Epub 2023 Mar 7. Clin Biochem. 2023. PMID: 36893960
BACKGROUND: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty acid metabolism. Its clinical presentation includes hypoketotic hypoglycemia and potentially life-threatening multiorga …
BACKGROUND: Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty …
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.
Cotelli MS, Vielmi V, Rimoldi M, Rizzetto M, Castellotti B, Bertasi V, Todeschini A, Gregorelli V, Baronchelli C, Gellera C, Padovani A, Filosto M. Cotelli MS, et al. Neurol Sci. 2012 Dec;33(6):1383-7. doi: 10.1007/s10072-011-0900-1. Epub 2011 Dec 22. Neurol Sci. 2012. PMID: 22190129
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessively inherited disorder of fatty acid metabolism due to ETFA, ETFB or ETFDH mutations. ...
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessively inherited disorder of fatty acid …
Prolonged neuraxial block following spinal anaesthesia in a patient with carnitine palmitoyl transferase II deficiency undergoing caesarean section.
Rasheed MA, Murphy D. Rasheed MA, et al. Int J Obstet Anesth. 2023 Aug;55:103895. doi: 10.1016/j.ijoa.2023.103895. Epub 2023 May 9. Int J Obstet Anesth. 2023. PMID: 37276780
Carnitine palmitoyl transferase II (CPT II) deficiency is a rare disorder of fatty acid metabolism in cell mitochondria. There is limited information about the disease process and complications of anaesthesia, particularly in the obstetric popul …
Carnitine palmitoyl transferase II (CPT II) deficiency is a rare disorder of fatty acid metabolism in cel …