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 https://www.malacards.org/card/2_methylbutyryl_coa_dehydrogenase_deficiency MEDGEN:355324 2-methylbutyryl Glycinuria 2-methylbutyrylglycinuria 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 GARD:0010322 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