Magazine article Science News

Pregnancy Unmasks Fatal Metabolism Defect

Magazine article Science News

Pregnancy Unmasks Fatal Metabolism Defect

Article excerpt

Pregnancy unmasks fatal metabolism defect

When a 21-year-old woman complained of headache and confusion eight days after giving birth to a healthy baby, physicians mistakenly diagnosed her as suffering from postpartum depression and admitted her to a psychiatric unit. Three days later, the woman went into coma and a week later, she died.

This dramatic case stumped physicians until the woman's blood revealed a telltale high level of ammonia, a diagnostic clue suggesting a rare, inherited disorder called ornithine carbamoyltransferase deficiency. The disease results from a defective gene located on the X chromosome that codes for the enzyme ornithine carbamoyltransferase, which the body needs to metabolize nitrogen-containing compounds derived from protein in the diet. Without enough functional enzyme, toxic ammonia builds up in the bloodstream and can lead to vomiting, seizures, coma and sometimes death.

Physicians know this enyme deficiency strikes male newborns who inherit the faulty gene from their mother. While a few female carriers develop the disease during childhood, most show no symptoms and up until now scientists believed asymptomatic adult carriers had escaped the disorder entirely.

Now Pamela Hawks Arn of the Nemours Children's Clinic in Jacksonville, Fla., Saul W. Brusilow of the Johns Hopkins University School of Medicine in Baltimore and colleagues report in the June 7 NEW ENGLAND JOURNAL OF MEDICINE that healthy female carriers may run a lifelong risk of potentially lethal episodes of high blood-ammonia levels. At the same time, another study in the same issue describes a new method of identifying such carriers.

In the first report, Arn, Brusilow and their co-workers describe five healthy women who abruptly developed toxic blood levels of ammonia and went into coma. All carried the mutant gene causing ornithine carbamoyltransferase deficiency, and two of the five subsequently died. …

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