Malonyl-CoA decarboxylase deficiency - Genetics Home Reference

Malonyl-CoA decarboxylase deficiency - Genetics Home Reference

Genetics Home Reference: Malonyl-CoA decarboxylase deficiency

04/24/2014 08:32 AM EDT

Source: National Library of Medicine - 

Malonyl-CoA decarboxylase deficiency

On this page:

 

• Description 
• Genetic changes 
• Inheritance 
• Diagnosis 
• Additional information 
• Other names
• Glossary definitions

Reviewed January 2010

What is malonyl-CoA decarboxylase deficiency?

Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency.

How common is malonyl-CoA decarboxylase deficiency?

This condition is very rare; fewer than 30 cases have been reported.

What genes are related to malonyl-CoA decarboxylase deficiency?

Mutations in the MLYCD gene cause malonyl-CoA decarboxylase deficiency. The MLYCD gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. Within cells, this enzyme helps regulate the formation and breakdown of a group of fats called fatty acids. Many tissues, including the heart muscle, use fatty acids as a major source of energy.

Mutations in the MLYCD gene reduce or eliminate the function of malonyl-CoA decarboxylase. A shortage of this enzyme disrupts the normal balance of fatty acid formation and breakdown in the body. As a result, fatty acids cannot be converted to energy, which can lead to characteristic features of this disorder including low blood sugar and cardiomyopathy. Byproducts of fatty acid processing build up in tissues, which also contributes to the signs and symptoms of malonyl-CoA decarboxylase deficiency.

Read more about the MLYCD gene.

How do people inherit malonyl-CoA decarboxylase deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of malonyl-CoA decarboxylase deficiency?

These resources address the diagnosis or management of malonyl-CoA decarboxylase deficiency and may include treatment providers.

• Baby's First Test
• Genetic Testing Registry: Deficiency of malonyl-CoA decarboxylase

You might also find information on the diagnosis or management of malonyl-CoA decarboxylase deficiency in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about malonyl-CoA decarboxylase deficiency?

You may find the following resources about malonyl-CoA decarboxylase deficiency helpful. These materials are written for the general public.

• MedlinePlus - Health information (3 links)
• Educational resources - Information pages (3 links)
• Patient support - For patients and families (3 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

• Genetic Testing Registry - Repository of genetic test information (1 link)
• ACT Sheets - Newborn screening follow up (1 link)
• ClinicalTrials.gov - Linking patients to medical research
• PubMed - Recent literature
• OMIM - Genetic disorder catalog

What other names do people use for malonyl-CoA decarboxylase deficiency?

• deficiency of malonyl-CoA decarboxylase
• malonic aciduria
• malonyl-coenzyme A decarboxylase deficiency
• MCD deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about malonyl-CoA decarboxylase deficiency?

Ask the Genetic and Rare Diseases Information Center.

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

• What does it mean if a disorder seems to run in my family?
• What are the different ways in which a genetic condition can be inherited?
• If a genetic disorder runs in my family, what are the chances that my children will have the condition?
• Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

• Genetics and health
• Resources for Patients and Families
• Resources for Health Professionals

What glossary definitions help with understanding malonyl-CoA decarboxylase deficiency?

acids ; aciduria ; autosomal ; autosomal recessive ; cardiomyopathy ; cell ; CoA ; coenzyme A ;deficiency ; enzyme ; fatty acids ; gene ; hypoglycemia ; hypotonia ; muscle tone ; newborn screening ;oxidation ; recessive ; screening

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (4 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.