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The case of the mistreated mother.

Three years ago, a young Missouri mother was convicted of poisoning her seven-month-old son and sentenced to life in prison. In a bizarre twist of fate, her sentence was overturned when researchers discovered that her second son, born in prison, suffered from a metabolic disorder that had probably caused her first son's death from acidosis.

Immediately after birth, the second child had become ill with symptoms similar to those of the dead older brother labored breathing, uncontrollable vomiting, and gastric distress. Diagnosed with methylmalonic acidemia (MMA), a severe metabolic disorder, the baby recovered when treated for a deficiency of camitine, the essential amino acid he was unable to metabolize because of a genetic disorder.

Dr. William Sly, chairman of the Department of Biochemistry at St. Louis University, and Dr. James Shoemaker, director of the university's metabolic screening lab, had followed the trial and suspected that the dead child might have suffered from MMA as well. The two researchers then obtained samples of the dead child's blood and tested it for ethylene glycol, the antifreeze that the mother had been accused of feeding her child.

Two labs had reported finding the chemical in the child's blood, but Sly and Shoemaker did not. They then sent the blood to Dr. Piero Rinaldo, a metabolic disease expert at Yale University, who confirmed the diagnosis of MMA.

Dr. Rinaldo then examined the reports of the two labs that had allegedly found ethylene glycol in the child's blood, which had led to the mother's conviction. The doctor found both reports to be in error.

In September 1991, two years after the mother had been imprisoned, Dr. Rinaldo was able to present his finding to the prosecutor who had convicted her. On the basis of this compelling evidence, all charges against the woman were dropped, and the mother was reunited with her second son.

Carnitine, a natural substance found in breast milk. dairy products and red meat. helps turn food into energy. Infants and children who are unable to metabolize carnitine because of an underlying genetic defect develop signs and symptoms that often mimic other disorders.

As the first doctors did in this case, physicians often overlook the diagnosis of MMA. Without replacement therapy with carnitine, the child may die suddenly or simply waste away. Metabolic specialists suspect that some cases of sudden infant death syndrome (SIDS) may be due to carnitine deficiency.

Family physicians and pediatricians are now being urged to consider the diagnosis of MMA for a child with feeding problems, chronic vomiting, failure to gain weight, frequent infections, and other symptoms more commonly associated with other diseases. Carnitine deficiency is rare, but parents and physicians need to be educated and informed about it. In the case described, not only did a child die needlessly because of failure to detect the disease, but the state of Missouri almost doomed an innocent mother to life in prison for a crime that never occurred.
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Title Annotation:diagnosing methylmalonic acidemia
Publication:Medical Update
Date:Jul 1, 1992
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