isovaleric acidemia
Findings
No curated finding names isovaleric acidemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009475), read 2026-09-29. CC BY 4.0.
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated urinary isovalerylglycine levelHPOHP:6000602
- 4 of 4 reported patients
- Sweaty foot-like odorHPOHP:6001063
- 30 of 30 reported patients
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Metabolic acidosisHPOHP:0001942
- Very frequent (80% to 99% of cases)
- 3-hydroxyisovaleric aciduriaHPOHP:0033111
- Frequent (30% to 79% of cases)
- Elevated circulating isovalerylcarnitine concentrationHPOHP:0033447
- Frequent (30% to 79% of cases)
Show the remaining 20
- KetonuriaHPOHP:0002919
- Frequent (30% to 79% of cases)
- Lactic acidosisHPOHP:0003128
- Frequent (30% to 79% of cases)
- LethargyHPOHP:0001254
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
- Acute pancreatitisHPOHP:0001735
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IVDHGNC:6186
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: isovaleric acidemia
- Also called
- isovaleric acid CoA dehydrogenase deficiencyIsovalericacidemiaisovaleryl-CoA dehydrogenase deficiency