short/branched-chain acyl-CoA dehydrogenase deficiency

(redirected from 2-Methylbutyryl-CoA dehydrogenase deficiency)
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short/branched-chain acyl-CoA dehydrogenase deficiency

An autosomal recessive disorder (OMIM:610006) characterised by a defect in catabolism of L-isoleucine, resulting in increased 2-methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine, which trigger seizures and psychomotor delay.

Molecular pathology
Defects in ACADSB, which encodes an enzyme involved in fatty acid metabolism, cause short/branched-chain acyl-CoA dehydrogenase deficiency.
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1 microdeletion syndrome, 2 4-Dienoyl-CoA reductase deficiency, 2-hydroxyethyl methacrylate sensitization, 2-Hydroxyglutaric aciduria, 2-methyl-3-hydroxybutyric aciduria, 2-Methylacetoacetyl CoA thiolase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, 21-hydroxylase deficiency, 22q11.
C5, may be indicative of 2-methylbutyryl-CoA dehydrogenase deficiency or isovaleric acidemia, depending on whether the metabolite measured is primarily methylbutyrylcarnitine or isovalerylcarnitine.