loading...| Preferred Name |
isovaleric acidemia |
| Synonyms |
IVD deficiency isovaleric acid CoA dehydrogenase deficiency isovaleric acid Coa dehydrogenase deficiency Isovalericacidemia isovaleric aciduria isovaleric acidemia isovaleryl-CoA dehydrogenase deficiency isovaleryl CoA carboxylase deficiency IVA |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0009475 |
| database_cross_reference |
Orphanet:33 ICD10CM:E71.110 SCTID:87827003 OMIM:243500 UMLS:C0268575 GARD:0000465 DOID:14753 NCIT:C98964 MESH:C538167 |
| definition |
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. |
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C98964 http://purl.bioontology.org/ontology/ICD10CM/E71.110 http://identifiers.org/mesh/C538167 http://identifiers.org/snomedct/87827003 http://purl.obolibrary.org/obo/Orphanet_33 |
| has_exact_synonym |
isovaleric acid CoA dehydrogenase deficiency Isovalericacidemia isovaleric aciduria isovaleric acidemia isovaleryl-CoA dehydrogenase deficiency |
| has_related_synonym |
IVD deficiency isovaleric acid Coa dehydrogenase deficiency isovaleryl CoA carboxylase deficiency IVA |
| IAO_0000233 | |
| id |
MONDO:0009475 |
| in_subset | |
| label |
isovaleric acidemia |
| notation |
MONDO:0009475 |
| prefLabel |
isovaleric acidemia |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia |
| treeView | |
| subClassOf |