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"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, mother of Hefford and a resident of Perth. "She started to feel unwell and she collapsed."
White blames protein shakes for her daughter's death.
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.
The estimated incidence of urea cycle disorders is 1 in 8,500 births. Since many cases remain undiagnosed, the exact incidence is unknown and believed to be underestimated.