Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Classic organic aciduria
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.
This condition has no sub-types.