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Deficiency of butyryl-CoA dehydrogenase

Known as: Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency, Butyryl-CoA Dehydrogenase Deficiency, Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) 
A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl… 
National Institutes of Health

Related topics

Related topics

23 relations
2-Methylbutyryl-CoA Dehydrogenase DeficiencyACADS geneACADS wt AlleleAutosomal recessive inheritance

Broader (2)

Lipid Metabolism, Inborn Errorsacyl-CoA dehydrogenase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
Spontaneous Coronary Artery Dissection: Association With Predisposing Arteriopathies and Precipitating Stressors and Cardiovascular Outcomes
Background—Nonatherosclerotic spontaneous coronary artery dissection (NA-SCAD) is underdiagnosed and an important cause of… 
Highly Cited
2012
Highly Cited
2012
Clinical Features, Management, and Prognosis of Spontaneous Coronary Artery Dissection
Background— Spontaneous coronary artery dissection (SCAD) is an acute coronary event of uncertain origin. Clinical features and… 
Highly Cited
2012
Highly Cited
2012
Climate change, rainfall, and social conflict in Africa
Much of the debate over the security implications of climate change revolves around whether changing weather patterns will lead… 
Highly Cited
2010
Highly Cited
2010
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis… 
Highly Cited
2008
Highly Cited
2008
Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum
The rapidly evolving field of metabolomics aims at a comprehensive measurement of ideally all endogenous metabolites in a cell or… 
Highly Cited
2007
Highly Cited
2007
Sparsistency and Rates of Convergence in Large Covariance Matrix Estimation.
This paper studies the sparsistency and rates of convergence for estimating sparse covariance and precision matrices based on… 
Highly Cited
2007
Highly Cited
2007
Excess Lipid Availability Increases Mitochondrial Fatty Acid Oxidative Capacity in Muscle
A reduced capacity for mitochondrial fatty acid oxidation in skeletal muscle has been proposed as a major factor leading to the… 
Highly Cited
2007
Highly Cited
2007
Re-evaluation of fatty acid metabolism-related gene expression in nonalcoholic fatty liver disease.
Nonalcoholic fatty liver disease (NAFLD) is one of the most frequent causes of abnormal liver dysfunction, and its prevalence has… 
Highly Cited
2000
Highly Cited
2000
Activation of AMP-activated protein kinase increases mitochondrial enzymes in skeletal muscle.
Muscle contraction causes an increase in activity of 5'-AMP-activated protein kinase (AMPK). This study was designed to determine… 
Highly Cited
1992
Highly Cited
1992
The mouse peroxisome proliferator activated receptor recognizes a response element in the 5′ flanking sequence of the rat acyl CoA oxidase gene.
Peroxisome proliferators are a diverse group of chemicals, including several hypolipidaemic drugs, that activate a nuclear… 
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