Recurrent myoglobinuria is a genetic condition that causes the myoglobin to be found in the urine. Myoglobin (a muscle protein) may be released into the blood when there is destruction of muscles. The released myoglobin eventually reaches the kidneys to be filtered and is eliminated in the urine. Recurrent myoglobinuria is due to an inborn error of metabolism, which is when the body has difficulty breaking down materials into energy. In most cases, the condition begins in childhood and is triggered by exertion or certain types of infections. Typical symptoms may include muscle stiffness, muscle pain, as well as difficulty with strenuous exercise.
Recurrent myoglobinuria may be linked to mutations (changes) in the MT-CO1 and MT-CO2 genes. Our genes are what control the growth, development and function of our bodies. If a mistake, or error, occurs in a gene, it can cause problems. We inherit our genes in pairs, one from each parent typically. Recurrent myoglobinuria may be inherited in an autosomal dominant or autosomal recessive manner, depending on which gene has the mutation.
Intense exercise and infections are both known to aggravate the condition, often being what leads to the initial diagnosis. Diagnosis for recurrent myoglobinuria can also be made by testing the urine for myoglobin and looking at the urine color. Rarely genetic testing may also be used for diagnosis. Individuals with the conditions are often recommended to avoid strenuous exercise. Other lifestyle modifications may be recommended by a physician on a case by case basis.
If you or a family member has been diagnosed with this condition, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Sep 03, 2018