has material basis in germline mutation in IVD isovaleric acidemia https://github.com/monarch-initiative/mondo/issues/4985 https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia https://www.malacards.org/card/isovaleric_acidemia IVD deficiency Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported. isovaleric acid Coa dehydrogenase deficiency isovaleric acidemia OMIM:243500 NANDO:2200494 NORD:712 NCIT:C98964 IVA MEDGEN:82822 MESH:C538167 UMLS:C0268575 NANDO:1200798 GARD:0000465 ICD10CM:E71.110 isovaleryl CoA carboxylase deficiency isovaleric acid CoA dehydrogenase deficiency MONDO:0009475 isovaleryl-CoA dehydrogenase deficiency DOID:14753 Orphanet:33 Isovalericacidemia SCTID:87827003 classic organic aciduria