2-methylbutyryl-CoA dehydrogenase deficiency

Disease Overview

A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.

Synonyms

• 2-methylbutyric aciduria
• 2-methylbutyryl Glycinuria
• 2-methylbutyryl-CoA dehydrogenase deficiency
• 2-methylbutyrylglycinuria
• SBCAD deficiency
• butyryl-CoA dehydrogenase deficiency
• developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
• short branched-chain acyl-CoA dehydrogenase deficiency
• short/branched-chain acyl-Coa dehydrogenase deficiency
• short/branched-chain acyl-coA dehydrogenase deficiency2-methylbutyric aciduria
• 2-methylbutyryl Glycinuria
• 2-methylbutyryl-CoA dehydrogenase deficiency
• 2-methylbutyrylglycinuria
• SBCAD deficiency
• butyryl-CoA dehydrogenase deficiency
• developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
• short branched-chain acyl-CoA dehydrogenase deficiency
• short/branched-chain acyl-Coa dehydrogenase deficiency
• short/branched-chain acyl-coA dehydrogenase deficiency