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Also known as:3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1MCCC1 3-methylcrotonyl-CoA carboxylase deficiency3 Alpha methylcrotonylglycinuria 1
Overview
Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.
GeneticsAutosomal recessive · MCCC1 (chr 3)
ResearchLimited published research (9 articles)
Clinical Presentation
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
Features include always present findings: Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric aciduria, and Global developmental delay. 21 total HPO annotations.
Acute hepatic steatosis, Feeding difficulties in infancy, Vomiting
Muscles
2
Low muscle tone (hypotonia), Generalized hypotonia
Growth and development
1
Failure to thrive
Kidneys and urinary system
1
Elevated urinary 3-methylcrotonylglycine level
Metabolism
1
Episodic metabolic acidosis
Bones and joints
1
Severe backward arching of the body (opisthotonus)
Lungs and breathing
1
Apnea
Explore clinical features
Genetic Landscape
Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.
MCCC1 encodes methylcrotonyl-CoA carboxylase subunit 1 (725 aa). Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric... Highest expression in Cells EBV-transformed lymphocytes (35.8 TPM) and Ovary (28.1 TPM).
3-methylcrotonyl-CoA carboxylase 1 deficiency is associated with mutations in the MCCC1 gene on chromosome 3.
The MCCC1 protein participates in Btn-MCCC1 mutants pathway.
MCCC1 is classified as a druggable target (Enzyme category) with score 0.0.
Diagnosis
Genetic testing for MCCC1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for 3-methylcrotonyl-CoA carboxylase 1 deficiency has been reported in the published literature.
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for 3-methylcrotonyl-CoA carboxylase 1 deficiency.
9 publications have been identified in PubMed for 3-methylcrotonyl-CoA carboxylase 1 deficiency. Research spans Diagnostic / Biomarker (44%), Review / Meta-Analysis (22%), and Case Report / Case Series (22%).
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.
