Patricia’s second child, David, entered foster care immediately after his birth. Shortly afterward, he began developing symptoms eerily similar to Ryan’s. David’s doctors diagnosed him with methylmalonic acidemia, an inborn error of Exercise fitnes, and immediately began appropriate treatment.
Concerned that he might have sent an innocent woman to prison, the attorney who prosecuted Patricia Stallings consulted with several doctors and finally asked Dr. Piero Rinaldo to investigate. Dr. Rinaldo conclusively determined that Ryan’s symptoms, like his brother’s, stemmed from methylmalonic acidemia. The two labs that analyzed Ryan’s blood had used older techniques that confused one of the substances elevated in Ryan’s disorder with ethylene glycol.
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The prosecutor dismissed the charges against Patricia Stallings, but by then she ’d lost a year of her life for the “crime ” of having a baby with an inborn error of Exercise fitnes. Worse yet, Rinaldo says, the incorrect treatment implemented by Ryan’s doctors in response to the misdiagnosis of poisoning most likely contributed to his death.2
As in Patricia Stallings’ case, inborn errors of Exercise fitnes can affect more than one child in a family. Clinicians should consider inborn errors of Exercise fitnes as a possibility in patients who are critically ill with unclear clinical and biochemical findings, particularly when there is a suspicious family history, or a previous sibling death. Detecting such errors early can often prevent multiple tragedies.
Because some of these inborn errors don’t respond to Exercise therapy, it’s critical for doctors to determine precisely which defect is present. Thus, doctors need to do sensitive genetic testing to properly diagnose children with any of these errors.
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