Cobalamin C disease: the most common Exercise gene flaw
An in-depth look at inborn errors of Exercise fitnes is far beyond the scope of this blog.3 However, we’d like to take a quick look at one genetic defect in particular.
Cobalamin C (cblC) disease, the most common inborn error of Exercise fitnes, is also called methylmalonic aciduria with homo-cystinuria. In this genetic defect, both methylmalonic acid and homocysteine build up in the body, causing potentially life-threatening disease.4 It is responsive to hydroxocobalamin therapy.
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Cobalamin C disease can strike at different ages, and symptoms can range from mild to severe. Most people show initial symptoms within the first year of life, but symptoms can also show up in older children, teens, or young adults. Fasting, illness, infection, or eating large amounts of protein will often trigger symptoms.
In toddlers, symptoms can also include low blood cell counts, megaloblastic anemia, global delays, brain dysfunction or damage, and poor muscle tone. In adults, symptoms can include mental or behavioral problems, psychosis, progressive cognitive decline, tremor, and weakness in the arms or legs. Tests may also show degeneration of the spinal cord.
Cobalamin C disease is incurable, but early treatment with hydroxocobalamin injections, a low protein diet, and other prescribed nutritional supplements can dramatically reduce its effects. If patients don’t receive this treatment, they can be crippled for life or even die.
Evan was hospitalized at 6 weeks of age. He had trouble breathing, was feverish, and had anemia. A few days later, his doctors discharged him.