Details of Disease

General Information of Disease (ID: DIS3ETX9)

• Disease Name: Isovaleric acidemia
• Synonyms: isovaleric acid Coa dehydrogenase deficiency; isovaleryl CoA carboxylase deficiency; IVA; IVD deficiency; isovaleryl-CoA dehydrogenase deficiency; isovaleric aciduria; isovaleric acidemia; isovaleric acid CoA dehydrogenase deficiency; Isovalericacidemia
• 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.
• Disease Hierarchy:
  DISCXXVK: Classic organic aciduria
  DIS3ETX9: Isovaleric acidemia
• Disease Identifiers:
  MONDO ID: MONDO_0009475
  MESH ID: C538167
  UMLS CUI: C0268575
  OMIM ID: 243500
  MedGen ID: 82822
  Orphanet ID: 33
  SNOMED CT ID: 87827003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNA13	OTVDL515	Strong	Biomarker	[1]
LUM	OTSRC874	Strong	Biomarker	[2]
IVD	OT8JFXUQ	Definitive	Autosomal recessive	[3]

References

• [1] MiR-29c mediates epithelial-to-mesenchymal transition in human colorectal carcinoma metastasis via PTP4A and GNA13 regulation of -catenin signaling.Ann Oncol. 2014 Nov;25(11):2196-2204. doi: 10.1093/annonc/mdu439. Epub 2014 Sep 5.
• [2] Lumacaftor/Ivacaftor reduces pulmonary exacerbations in patients irrespective of initial changes in FEV(1).J Cyst Fibros. 2019 Jan;18(1):94-101. doi: 10.1016/j.jcf.2018.07.011. Epub 2018 Aug 23.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.