/2-methylbutyryl-CoA dehydrogenase deficiency

2-methylbutyryl-CoA dehydrogenase deficiency

Rare Disease

MONDO:0012392

Also Known As

2-methylbutyric aciduria2-methylbutyryl-CoA dehydrogenase deficiency2-methylbutyrylglycinuriaSBCAD deficiencybutyryl-CoA dehydrogenase deficiencydevelopmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiencyshort/branched-chain acyl-coA dehydrogenase deficiency2-methylbutyryl Glycinuriashort branched-chain acyl-CoA dehydrogenase deficiencyshort/branched-chain acyl-Coa dehydrogenase deficiency

Definition

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.