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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H00375 SBCAD deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06024 Valine, leucine and isoleucine degradation
H00375 SBCAD deficiency
Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F
Title
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.
