has material basis in germline mutation in
ACADSB
2-methylbutyryl-CoA dehydrogenase deficiency
https://github.com/monarch-initiative/mondo/issues/4521
https://github.com/monarch-initiative/mondo/issues/4985
https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency
2-methylbutyryl Glycinuria
2-methylbutyrylglycinuria
GARD:10322
2-methylbutyric aciduria
short/branched-chain acyl-Coa dehydrogenase deficiency
butyryl-CoA dehydrogenase deficiency
SBCAD deficiency
short branched-chain acyl-CoA dehydrogenase deficiency
MESH:C566487
Orphanet:79157
MONDO:0012392
OMIM:610006
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.
NCIT:C98863
UMLS:C1864912
developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency
short/branched-chain acyl-coA dehydrogenase deficiency
classic organic aciduria