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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

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Highly Cited
2001
Highly Cited
2001
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
OBJECTIVE To evaluate newborn screening by tandem mass spectrometry for detection of medium chain acyl-CoA dehydrogenase (MCAD… 
Highly Cited
2001
Highly Cited
2001
Regulation of lipid metabolism and gene expression by fenofibrate in hamsters.
Highly Cited
1999
Highly Cited
1999
Phenotypic characterization of Lith genes that determine susceptibility to cholesterol cholelithiasis in inbred mice: integrated activities of hepatic lipid regulatory enzymes.
There is no consensus whether hepatic lipid regulatory enzymes play primary or secondary roles in cholesterol cholelithiasis. We… 
Highly Cited
1999
Highly Cited
1999
Species differences in sequence and activity of the peroxisome proliferator response element (PPRE) within the acyl CoA oxidase gene promoter.
Highly Cited
1994
Highly Cited
1994
Metabolic disease and sudden, unexpected death in infancy.
Highly Cited
1986
Highly Cited
1986
Two acyl-coenzyme A oxidases in peroxisomes of the yeast Candida tropicalis: primary structures deduced from genomic DNA sequence.
We report the complete nucleotide sequence of two genes encoding major peroxisomal polypeptides (PXPs) of Candida tropicalis. One… 
Highly Cited
1982
Highly Cited
1982
Oxidation of Fatty Acids in Cultured Fibroblasts: a Model System for the Detection and Study of Defects in Oxidation
Summary: A number of recently described inherited disorders interfere with the oxidation of fatty acids. In these disorders at… 
Highly Cited
1979
Highly Cited
1979
Esterification of cholesterol in human small intestine: the importance of acyl‐CoA:cholesterol acyltransferase
Abstract. Human intestinal mucosa contains acyl‐CoA: cholesterol acyltransferase activity. The enzyme has been studied by using… 
Highly Cited
1978
Highly Cited
1978
Separation and characterization of two long-chain acyl-CoA synthetases from Candida lipolytica.
Two activities of long-chain acyl-CoA synthetase have been demonstrated in the particulate fraction derived from cells of Candida… 
Highly Cited
1969
Highly Cited
1969
Effects of ethylenic bond position upon acyltransferase activity with isomeric cis-octadecenoyl coenzyme A thiol esters.
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