Article
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
Molecular genetics and metabolism - 1 Jan 2008
Sass Jörn Oliver, Ensenauer Regina, Röschinger Wulf, Reich Horst, Steuerwald Ulrike, Schirrmacher Oliver, Engel Katharina, Häberle Johannes, Andresen Brage Storstein, Mégarbané André, Lehnert Willy, Zschocke Johannes
Abstract excerpt
2-Methylbutyryl-CoA dehydrogenase (MBD; coded by the ACADSB gene) catalyzes the step in isoleucine metabolism that corresponds to the isovaleryl-CoA dehydrogenase reaction in the degradation of leucine. Deficiencies of both enzymes may be detected by expanded neonatal screening with tandem-mass spectrometry due to elevated pentanoylcarnitine (C5 acylcarnitine) in blood, but little information is available on the...
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