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. [ Orphanet:33 ]
Synonyms: isovaleric acidemia Isovalericacidemia isovaleryl-CoA dehydrogenase deficiency isovaleric acid CoA dehydrogenase deficiency isovaleric aciduria
Term information
- NCIT:C98964 (MONDO:equivalentTo)
- Orphanet:33 (OMIM:243500)
- SCTID:87827003 (MONDO:equivalentTo)
- MESH:C538167 (Orphanet:33/e)
- DOID:14753 (MONDO:equivalentTo)
- NORD:712 (MONDO:NORD)
- UMLS:C0268575 (Orphanet:33/e)
- GARD:465 (Orphanet:33)
- OMIM:243500 (Orphanet:33/e)
- ICD10CM:E71.110 (MONDO:equivalentTo)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
http://identifiers.org/snomedct/87827003
http://www.orpha.net/ORDO/Orphanet_33
http://purl.obolibrary.org/obo/NCIT_C98964
http://linkedlifedata.com/resource/umls/id/C0268575
http://identifiers.org/mesh/C538167
http://purl.bioontology.org/ontology/ICD10CM/E71.110
http://purl.obolibrary.org/obo/DOID_14753
https://omim.org/entry/243500
IVD deficiency
IVA
isovaleric acid Coa dehydrogenase deficiency
isovaleryl CoA carboxylase deficiency
https://search.clinicalgenome.org/kb/conditions/MONDO:0009475
https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia