Living with Deficiency of malonyl-CoA decarboxylase
An inherited condition that prevents the body from converting certain fats to energy, with delayed development and heart muscle disease.
Understanding Deficiency of malonyl-CoA decarboxylase
Signs typically appear in early childhood. Almost all affected children have delayed development. A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development overall
- Heart muscle disease (cardiomyopathy)
- Muscle tensing that twists the body (dystonia)
- Feeding difficulties
- Poor weight gain (failure to thrive)
- Small head size (microcephaly)
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.
- 3Consider genetic testing
Changes in MLYCD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 the MLYCD gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of malonyl-coenzyme a decarboxylase; malonic aciduria; malonyl-coa decarboxylase deficiency; mcd deficiency; mlycd-gene related malonic aciduria
Patient organizations
- Organic Acidemia AssociationDeficiency of malonyl-CoA decarboxylase · United States
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