has material basis in germline mutation in disease has major feature ACAD8 Dilated cardiomyopathy isobutyryl-CoA dehydrogenase deficiency https://github.com/monarch-initiative/mondo/issues/324 https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency https://www.malacards.org/card/isobutyryl_coa_dehydrogenase_deficiency NCIT:C129975 GARD:0010223 MESH:C535541 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency MEDGEN:370754 UMLS:C1969809 OMIM:611283 isobutyric aciduria An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). acyl-CoaA dehydrogenase family, member 8, deficiency of Orphanet:79159 obsolete syndrome associated with dilated cardiomyopathy classic organic aciduria