2-methylbutyryl-CoA dehydrogenase deficiency
From BugSigDB
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.
- Aliases
- 2-methylbutyric aciduria
- 2-methylbutyryl Glycinuria
- 2-methylbutyryl-CoA dehydrogenase deficiency
- 2-methylbutyryl-CoA dehydrogenase deficiency
- butyryl-CoA dehydrogenase deficiency
- Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
- developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
- SBCAD deficiency
- short branched-chain acyl-CoA dehydrogenase deficiency
- Short/branched-chain acyl-coA dehydrogenase deficiency
- short/branched-chain acyl-Coa dehydrogenase deficiency
- short/branched-chain acyl-coA dehydrogenase deficiency
