Methylmalonyl-Coenzyme A mutase deficiency

What is the long term outlook for methylmalonyl-Coenzyme A mutase deficieny?

The threat of metabolic attacks caused by methylmalonyl-Coenzyme A mutase deficieny (MCM deficiency) is lifelong even if the diet is well controlled, but the number and severity of attacks depend on several factors including the amount of working MCM enzyme present and diet. Those with no MCM enzyme (MUT0) have a higher risk of complications and attacks. Those with some working MCM enzyme have less risk of complications, but may still have attacks when ill, stressed, fasting for long periods, or eating too much protein containing the amino acids isoleucine, methionine, threonine and valine.

The life expectancy for people with MCM deficiency has been improving due to early diagnosis and better understanding of dietary requirements and metabolic attack triggers and treatment. Life threatening complications are more common for those with MUT0. However medical researchers are working on several promising treatments.

Last updated on 05-01-20

How might Methylmalonyl-Coenzyme A mutase deficiency be treated?

In 2014, guidelines for managment of methylmalonyl-Coenzyme A mutase deficiency (MMC deficiency) were published by professionals across 12 European countries and the United States. These guidelines are based on a review of published medical studies and expert group meetings. The guidelines may be hard to read without a medical background but can be shared with the affected person's doctor or other trusted medical professional: Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Last updated on 05-01-20

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