Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms

Journal of Inherited Metabolic Disease
Zahra NochiNiels Gregersen

Abstract

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inherited disorder of mitochondrial fatty acid oxidation that is characterized by the presence of increased butyrylcarnitine and ethylmalonic acid (EMA) concentrations in plasma and urine. Individuals with symptomatic SCADD may show relatively severe phenotype, while the majority of those who are diagnosed through newborn screening by tandem mass spectrometry may remain asymptomatic. As such, the associated clinical symptoms are very diverse, ranging from severe metabolic or neuromuscular disabilities to asymptomatic. Molecular analysis of affected individuals has identified rare gene variants along with two common gene variants, c.511C > T and c.625G > A. In vitro studies have demonstrated that the common variants as well as the great majority of rare variants, which are missense variants, impair folding, that may lead to toxic accumulation of the encoded protein, and/or metabolites, and initiate excessive production of ROS and chronic oxidative stress. It has been suggested that this cell toxicity in combination with yet unknown factors can trigger disease development. This association and the full implications of SCADD are not commonly appreciated. Accordingly, ther...Continue Reading

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Citations

Jun 4, 2020·Autism Research : Official Journal of the International Society for Autism Research·Sofia StathopoulosColleen O'Ryan
Jun 20, 2019·Archives of Physiology and Biochemistry·Sofia R BrandãoHugo Rocha
Jun 3, 2020·International Journal of Molecular Sciences·Signe MosegaardRikke Katrine Jentoft Olsen
Mar 23, 2020·Molecular Metabolism·Sophie TrefelyKathryn E Wellen
May 12, 2020·Molecular Genetics and Metabolism·Megan E BeckEric S Goetzman
Feb 17, 2021·The Journal of Clinical Endocrinology and Metabolism·Evdoxia BletsaVasilis Tsimihodimos
Oct 16, 2020·Clinica Chimica Acta; International Journal of Clinical Chemistry·Xinmei MaoJia Liu

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