3-methylcrotonyl-CoA carboxylase 2 deficiency
Findings
No curated finding names 3-methylcrotonyl-CoA carboxylase 2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0008862), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
7 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
- 3 of 5 reported patients
- HyperammonemiaHPOHP:0001987
- 2 of 5 reported patients
- HyperleucinemiaHPOHP:0010911
- 2 of 5 reported patients
- Cerebral palsyHPOHP:0100021
- 1 of 5 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 5 reported patients
- SeizureHPOHP:0001250
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.
- MCCC2HGNC:6937
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Also called
- 3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2MCCC2 3-methylcrotonyl-CoA carboxylase deficiency