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MCEE gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MCEE gene

The MCEE gene provides instructions for making an enzyme that helps break down certain amino acids, fats, and cholesterol.

Normal Function

The MCEE gene provides instructions for making an enzyme called methylmalonyl CoA epimerase, which converts one form of the molecule methylmalonyl CoA to another. Specifically, the enzyme converts D-methylmalonyl CoA to L-methylmalonyl CoA. This conversion takes place within the pathway that converts the molecule propionyl-CoA to succinyl-CoA. This pathway is important in the breakdown of certain protein building blocks (amino acids), specific fats (lipids), and cholesterol.

Health Conditions Related to Genetic Changes

Methylmalonic acidemia

At least three mutations in the MCEE gene have been found to cause methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, and long-term health problems. These mutations are thought to result in the production of a methylmalonyl CoA epimerase enzyme with little or no function.

People with methylmalonic acidemia caused by mutations in the MCEE gene typically have milder signs and symptoms than people with the condition caused by mutations in other genes. The features may be milder because there is an alternate pathway for the conversion of propionyl-CoA to succinyl-CoA that does not involve methylmalonyl CoA epimerase, so some succinyl-CoA is produced even when there are mutations in the MCEE gene. This alternate pathway cannot compensate for the breakdown of certain molecules that occurs in the regular pathway, so people with MCEE gene mutations still have a buildup of the byproducts of some amino acids and certain fats. As a result, these toxic compounds build up in the body's organs and tissues, causing the signs and symptoms of methylmalonic acidemia.

Other Names for This Gene

  • DL-methylmalonyl-CoA racemase
  • GLOD2
  • glyoxalase domain containing 2
  • MCEE_HUMAN
  • methylmalonyl CoA epimerase
  • methylmalonyl-CoA epimerase, mitochondrial
  • methylmalonyl-CoA epimerase, mitochondrial precursor

Frequently Asked Questions

MCEE-related methylmalonic acidemia is typically milder than forms caused by mutations in other genes because the body has an alternate metabolic pathway that can convert propionyl-CoA to succinyl-CoA without using the MCEE enzyme. This backup route allows for some production of essential metabolites, preventing the severe toxic buildup seen in other types. However, this alternate pathway cannot fully compensate for the breakdown of specific amino acids and fats, so toxic byproducts still accumulate and cause symptoms, just at a less severe level. What are the primary clinical signs that might lead to a diagnosis of MCEE-related methylmalonic acidemia?::Common early signs include feeding difficulties, poor weight gain, and developmental delays. Because the condition is often milder, symptoms may not appear immediately at birth but can emerge as the child grows. Long-term health issues may include neurological problems and organ damage due to the gradual buildup of toxic compounds from amino acid and fat metabolism. Are there specific dietary or medical management strategies for managing MCEE-related metabolic issues?::Management typically involves a specialized diet that restricts the intake of specific amino acids and fats that the body cannot properly break down due to the enzyme deficiency. This helps reduce the accumulation of toxic byproducts. Patients may also require medical monitoring to manage metabolic crises, which can be triggered by illness, fasting, or high-protein meals. Is MCEE-related methylmalonic acidemia inherited, and how can it be detected?::The condition is inherited in an autosomal recessive pattern, meaning a person must inherit two mutated copies of the MCEE gene, one from each parent, to develop the disorder. Parents are usually carriers without symptoms. Diagnosis can be confirmed through genetic testing that identifies specific mutations in the MCEE gene, often following initial screening for elevated levels of methylmalonic acid in the blood or urine.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.