2-methylbutyryl-CoA dehydrogenase deficiency

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.

Also known as: 2-methylbutyric aciduria, 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, 2-methylbutyryl Glycinuria

0 clinical trials for this condition and its sub-types.