Disease at a Glance

Summary
Methylmalonic acidemia refers to a group of inherited conditions in which the body can't breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and bouts of serious illness called decompensation events or metabolic crises. Symptoms of a decompensation event include poor feeding, vomiting, trouble breathing, and lack of energy (lethargy). These can occur at different ages and can range from mild to severe. Methylmalonic acidemia is caused by changes in several different genes and is inherited in an autosomal recessive fashion. Long-term complications can include growth delay, intellectual disability, kidney disease, and pancreatitis. Methylmalonic acidemia can be isolated or may occur along with another condition called homocystinuria.
Estimated Number of People with this Disease

This section is currently in development.

What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.
Categories
When do symptoms of this disease begin?
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Symptoms

This section is currently in development. We recommend speaking with a doctor to learn more about this disease. 

Causes

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Last Updated: Nov. 8, 2021