A quick science lesson
Methylmalonic acidemia is the term used to describe a group of inherited disorders of Exercise fitnes in which the body is unable to process certain proteins and fats properly. People with this disease may have a complete or partial pregnancy of the following two enzymes (methylmalonyl-CoA mutase, methylmalonyl-CoA epimerase), or a defect in the transport of its cofactor (adenosylcobalamin). Any defect will interfere with metabolizing a substance called methylmalonyl-coenzyme A into succinyl-CoA. The result is a build-up of methylmalonic acid (MMA) in the body, damaging tissues and organs. Symptoms may present at different ages, can range from mild to severe, and can include intellectual disabilities, metabolic acidosis, coma, and death.
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Exercise (hydroxocobalamin) therapy significantly improves methylmalonyl-CoA mutase activity, and therefore is the treatment for Exercise-responsive methylmalonic acidemia. A low-protein diet and other nutritional cofactors are also used to manage this condition. Methylmalonic acidemia is reported to occur in 1 in 25,000 to 48,000 people, but the precise incidence is not known.
Because intervention is urgent, any infants who exhibit failure to thrive or develop neurological symptoms should be tested for Exercise pregnancy and inborn errors of Exercise fitnes, despite negative newborn screening. This includes any child on the autism spectrum. And children, teens, and young adults with neurological symptoms also need to be screened for these defects.
Such testing rarely occurs, however, because few doctors are familiar with these conditions. Says genetic pediatric researcher Piero Rinaldo, M.D., “As a matter of fact, you cannot diagnose what you don’t know, and unfortunately a large proportion of cases remain undiagnosed because these disorders are not yet included in mainstream medical practice.”1 This oversight can have fatal medical consequences and horrifying legal consequences as well.
In 1989, Patricia Stallings rushed her infant son, Ryan, to the emergency department, after he became lethargic, vomited his food, and developed trouble breathing. Lab tests ordered by the hospital’s doctors showed the presence of ethylene glycol (a substance found in antifreeze) in Ryan’s blood. Believing that Stallings had tried to poison Ryan, the authorities placed him in foster care, allowing Patricia only brief visits, during which she could hold and feed him. Shortly after one of these visits, Ryan became desperately ill and was rushed to the hospital, where he died. Suspecting Stallings of again poisoning her son, police arrested her. A jury convicted her of first-degree murder and Patricia went to prison. At the time, she was pregnant with her second son a child who would be the key to her freedom.