Living with Methylcrotonyl-CoA carboxylase deficiency
An inherited condition in which the body can't fully break down the protein building block leucine. Many people have no symptoms.
Understanding Methylcrotonyl-CoA carboxylase deficiency
Signs vary, even within a family. Many people never have symptoms, and some do not have them until adulthood. Others have signs in infancy or early childhood after an infection, a long time without food, or a high-protein diet. Features may include feeding difficulties, delayed development, vomiting, low energy, and low muscle tone.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor weight gain in infancy
- Low muscle tone (hypotonia)
- Movement differences
- Vomiting
- Feeding difficulties
- Low energy
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Organic Acidemia Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: 3 methylcrotonylglycinuria; 3-mcc deficiency; 3-methylcrotonyl-coa carboxylase deficiency; 3-methylcrotonylglycinuria; 3mcc deficiency; beta-methylcrotonylglycinuria, type 1
Patient organizations
- Organic Acidemia AssociationMethylcrotonyl-CoA carboxylase deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Methylcrotonyl-CoA carboxylase deficiency.
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