- Urea cycle disorder prevents the body from metabolizing protein in a normal way
- Symptoms, which include lack of concentration and vomiting, can go unnoticed for years
(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.
Since 2014, Hefford, who worked at Princess Margaret Hospital for Children and studied paramedicine, had been competing as a bodybuilder.
It was only after Hefford's death that White discovered containers of protein supplements in her daughter's kitchen, along with a strict food plan. White understood then that her daughter, who had been preparing for another bodybuilding competition, had also been consuming an unbalanced diet.