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.

单词	short/branched-chain acyl-coa dehydrogenase deficiency
释义	short/branched-chain acyl-CoA dehydrogenase deficiency 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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