3-methylcrotonyl-CoA carboxylase deficiency
Findings
No curated finding names 3-methylcrotonyl-CoA carboxylase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
Definition from the Mondo Disease Ontology (MONDO:0018950), 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.
- Abnormal circulating leucine concentrationHPOHP:0004357
- Very frequent (80% to 99% of cases)
- HypoglycemiaHPOHP:0001943
- Very frequent (80% to 99% of cases)
- HypotoniaHPO · MondoHP:0001252
- Very frequent (80% to 99% of cases)
- Organic aciduriaHPOHP:0001992
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Frequent (30% to 79% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- HyperammonemiaHPOHP:0001987
- Frequent (30% to 79% of cases)
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Occasional (5% to 29% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Occasional (5% to 29% of cases)
- SpasticityHPOHP:0001257
- Occasional (5% to 29% of cases)
- Skeletal muscle atrophyMondoHP:0003202
Genes
2 genes
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.
Where it sits
- A kind of
Other names
5 names
Resolves to: 3-methylcrotonyl-CoA carboxylase deficiency
- Also called
- 3-MCC deficiency3-methylcrotonylglycinuriaMCC deficiencyMCCDMethylcrotonyl-CoA carboxylase deficiency