isobutyryl-CoA dehydrogenase deficiency
Findings
No curated finding names isobutyryl-CoA dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).
Definition from the Mondo Disease Ontology (MONDO:0012648), read 2026-09-29. CC BY 4.0.
Features
11 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.
- Decreased circulating carnitine concentrationHPOHP:0003234
- Frequent (30% to 79% of cases)
- Elevated circulating fatty acylcarnitine concentrationHPOHP:0045045
- Frequent (30% to 79% of cases)
- Elevated urinary dicarboxylic acid levelHPOHP:0003215
- Frequent (30% to 79% of cases)
- DehydrationHPOHP:0001944
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
- Dilated cardiomyopathyHPO · MondoHP:0001644
- 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.
- ACAD8HGNC:87
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · Ambry Genetics · Autosomal recessive · 2018
- 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
1 name
Resolves to: isobutyryl-CoA dehydrogenase deficiency
- Also called
- isobutyric aciduria