label: 2-methylbutyryl-CoA dehydrogenase deficiency
label_lc: 2-methylbutyryl-coa dehydrogenase deficiency
description: 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.