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Carrier Screening For Inherited Genetic Conditions
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Whitney Bender, Lorraine Dugoff
Clinical features: This disorder is caused by a deficiency of medium-chain acyl-CoA dehydrogenase. This disorder is characterized by an intolerance to prolonged fasting, recurrent episodes of hypoglycemic coma, impaired ketogenesis, and low plasma and tissue carnitine levels.
Very long-chain acyl-CoA dehydrogenase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
VLCAD deficiency is transmitted in an autosomal recessive fashion. The enzyme was purified from rat liver mitochondria [1]. It is loosely bound to the inner mitochondrial membrane and requires ETF as the electron receptor. It is unique among the acyl-CoA dehydrogenases in its size, structure, and intramitochondrial distribution. Unlike the other mitochondrial acyl CoA dehydrogenases, it is a 154 kD dimer of a 70 kd subunit. It does not crossreact with antibodies against LCAD or other acyl CoA dehydrogenases. Its activity is greatest against C16, palmitoyl CoA, and activity is ten times that of LCAD. Deficiency of VLCAD may be proven in cultured fibroblasts. Antibody against VLCAD is reduced by 66–75 percent, and this may be demonstrated by Western blot analysis.
Organic acid disorders and disorders of fatty acid oxidation
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Multiple acyl CoA dehydrogenase deiciency is a rare disorder that belongs to a group of conditions known as the organic acidaemias. It can be caused by a deiciency in either the electron transfer flavoprotein (ETF) enzyme or the ETF-ubiquinone oxidoreductase (ETF-QO) enzyme. This results in the accumulation of organic acids in the blood and urine. There are two forms of multiple acyl CoA dehydrogenase deiciency: a neonatal form in which the enzyme is completely absent, and that is often fatal during the newborn perioda late-onset form which is less severe and that can present at any age.
A comprehensive proteomics analysis of the response of Pseudomonas aeruginosa to nanoceria cytotoxicity
Published in Nanotoxicology, 2023
Lidija Izrael Živković, Nico Hüttmann, Vanessa Susevski, Ana Medić, Vladimir Beškoski, Maxim V. Berezovski, Zoran Minić, Ljiljana Živković, Ivanka Karadžić
The upregulation of several enzymes involved in lipid catabolism through the β-oxidation of fatty acids were found: acetyl-CoA acetyltransferase, acyl-CoA dehydrogenase, acyl-CoA thiolase, and long-chain-fatty-acid-CoA ligase (Table 1), suggesting increased generation of acetyl-CoA, which enters the citric acid cycle, and NADH and FADH2 that are used for further oxidation and energy production. Interestingly, dihydrolipoyl dehydrogenase, which contains lipoamide as a cofactor, was downregulated, indicating reduced synthesis of lipid structures. Impaired structures and reduced biosynthesis of fatty acids and lipids in association with ROS that cause lipid peroxidation in P. aeruginosa produce a strong effect on maintaining bacterial cell integrity, primarily through the effects on membrane phospholipids, lipidated membrane proteins that are tightly connected to transport machinery, and lipopolysaccharides of the outer membrane, responsible for permeability. Notably, even the intact outer membrane of P. aeruginosa has low permeability to various compounds, not only toxic, but also nutritional substrates (Tamber, Ochs, and Hancock 2006).
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype
Published in Archives of Physiology and Biochemistry, 2021
Sofia R. Brandão, Rita Ferreira, Hugo Rocha
MADD is generally characterized by hypoketotic hypoglycemia and by accumulation and excretion of abnormal amounts of acylcarnitines and organic acids derived from the substrates of acyl-CoA dehydrogenases (Frerman and Goodman 1985, Sim et al.2002, Sahai and Marsden 2009). The acylcarnitine pattern, ranging from short-chain (C4) to long-chain (C14, C16), support the impairment of almost all acyl-CoA dehydrogenases activity. Indeed, the ETF/ETFDH complex is essential for the acyl-CoA dehydrogenases functionality since it accepts electrons and protons and transfers them to CoQ (Christensen et al.1984, Gregersen et al.2008). Nonsense, frameshift and splice junction mutations that lead to mRNA degradation by the nonsense-mediated mRNA decay (NMD) system or by other processes result in complete absence of functional protein and are associated with severe, in many cases fatal, clinical disease (severe MADD). On the opposition, missense mutations and small in-frame deletions and insertions are usually associated with milder clinical presentations (mild MADD) (Gregersen et al.2008, Gregersen and Olsen 2010).
Can miR-34a be suitable for monitoring sensorineural hearing loss in patients with mitochondrial disease? A case series
Published in International Journal of Neuroscience, 2020
Roberta Marozzo, Valentina Pegoraro, Laura Dipietro, Massimo Ralli, Corrado Angelini, Arianna Di Stadio
Patient 2 was an 82-year-old woman carrier of deficiency of electron transfer flavoprotein dehydrogenase (ETFDH) mutation. ETFDH, also called ETF-ubiquinone oxidoreductase, is a mitochondrial protein localized in the inner membrane that plays a key role in the electron-transfer system. The mutation of the ETFDH gene causes multiple acyl-CoA dehydrogenase deficiencies (MADD), a rare autosomal recessive inherited disorder of fatty acid, amino acid, and choline metabolism [19]. The patient was not taking any medication for MD. PTA showed a bilateral mild to moderate SNHL with normal impedance and bilaterally present stapedius reflexes. The DPOAE test showed cochlear damage affecting the 2000–6000 Hz frequency range. ABR waves I and II were absent bilaterally; wave III amplitude and latency were normal on the right side, but absent on the left side; and wave V amplitude and latency were normal bilaterally.