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.
MONDO:0019215
classic organic aciduria
is_a
2-methylbutyric aciduria
exact
2-methylbutyryl-CoA dehydrogenase deficiency
exact
2-methylbutyrylglycinuria
exact
SBCAD deficiency
exact
butyryl-CoA dehydrogenase deficiency
exact
developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
exact
short branched-chain acyl-CoA dehydrogenase deficiency
related
short/branched-chain acyl-coA dehydrogenase deficiency
exact