Meegan Hefford was taking protein shakes and eating protein-rich foods, such as lean meat and egg whites, to get in shape for a bodybuilding competition. Unknown to the mother-of-two, she had a rare genetic disorder that stopped her body from properly breaking down the protein. Urea cycle disorder, which affects one in 8000 people, caused a build-up of ammonia in her blood and accumulation of fluid in her brain. Her family is calling for tighter restrictions on the dietary supplements industry and for warnings about high- protein diets.
(CNN)Meegan Hefford, a 25-year-old bodybuilder, was found unconscious on June 19 in her Mandurah, Western Australia, apartment, according to CNN affiliate Australia News 7. Days later, Hefford was pronounced dead. Only after her death did her family learn that Hefford, the mother of a 7-year-old girl and a 5-year-old boy, had a rare genetic disorder that prevented her body from properly metabolizing her high-protein diet.
Urea cycle disorder, which causes a deficiency of one enzyme in the urea cycle, stops the body from breaking down protein, according to the nonprofit National Urea Cycle Disorders Foundation. Normally, the body can remove nitrogen, a waste product of protein metabolism, from the blood. However, a urea cycle disorder would prohibit this. Therefore, nitrogen, in the form of toxic ammonia, would accumulate in the blood and eventually reach the brain, where it can cause irreversible damage, coma and death.
“The enzyme deficiency can be mild enough so that the person is able to detoxify ammonia adequately — until there’s a trigger,” said Cynthia Le Mons, executive director of the foundation. The trigger could be a viral illness, stress or a high-protein diet, she added.
“There was just no way of knowing she had it because they don’t routinely test for it,” said Michelle White, Hefford’s mother and a resident of Perth. “She started to feel unwell, and she collapsed.”
White blames protein shakes for her daughter’s death.