3-methylcrotonyl-CoA carboxylase 1 deficiency
Findings
No curated finding names 3-methylcrotonyl-CoA carboxylase 1 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 MCCC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0008861), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset · Infantile onset · Juvenile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
42 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.
- 3-hydroxyisovaleric aciduriaHPOHP:0033111
- 10 of 10 reported patients
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Aspiration pneumoniaHPOHP:0011951
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 1 of 1 reported patient
- Clonic seizureHPOHP:0020221
Show the remaining 30
- Elevated circulating 3-hydroxyisovalerylcarnitine concentrationHPOHP:0035028
- 1 of 1 reported patient
- Elevated urinary 3-methylcrotonylglycine levelHPOHP:0033596
- 10 of 10 reported patients
- Episodic vomitingHPOHP:0002572
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient
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.
- MCCC1HGNC:6936
- 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 1 deficiency
- Also called
- 3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1MCCC1 3-methylcrotonyl-CoA carboxylase deficiency