SBCAD deficiency

Definition:

Short-branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency is an autosomal recessive disorder of isoleucine catabolism, caused by mutations in the ACADSB gene. SBCAD dehydrogenates 2-methylbutyryl-CoA as part of the degradation of isoleucine in mitochondria.

References:

[1]. B S Andresen, et al. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am J Hum Genet. 2000 Nov;67(5):1095-103. [Content Brief]

[2]. Pia Pinholt Madsen, et al. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Hum Genet. 2006 Feb;118(6):680-90. [Content Brief]

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