MANDURAH, Australia Meegan Hefford, a 25-year-old bodybuilder, was found unconscious on June 19 in her Mandurah, Western Australia, apartment, according toAustralia News 7. <\/p>\n
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. <\/p>\n
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. <\/p>\n
Normally, the body can remove nitrogen, a waste product of protein metabolism, from the blood. However, a urea cycle disorder would prohibit this. <\/p>\n
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. <\/p>\n
The enzyme deficiency can be mild enough so that the person is able to detoxify ammonia adequately until theres 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. <\/p>\n
There was just no way of knowing she had it because they dont routinely test for it, said Michelle White, Heffords mother. She started to feel unwell, and she collapsed. <\/p>\n
White blames protein shakes for her daughters death. <\/p>\n
Since 2014, Hefford, who worked at Princess Margaret Hospital for Children and studied paramedicine, had been competing as a bodybuilder. <\/p>\n
It was only after Heffords death that White discovered containers of protein supplements in her daughters 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. <\/p>\n
Hefford was eating way too much protein, said White, which triggered her daughters unknown urea cycle condition. (For most healthy people, ahigh-protein diet, when followed for a short time, generally isnt harmful, according to the Mayo Clinic.) <\/p>\n
Heffords diet included protein-rich foods, such as lean meat and egg white, in addition to protein shakes and supplements, her mother said. <\/p>\n
Theres medical advice on the back of all the supplements to seek out a doctor, but how many young people actually do? White asked. <\/p>\n
Le Mons said, typically, there are nuanced symptoms that just go unrecognized with mild cases of urea cycle disorder. Symptoms include episodes of a lack of concentration, being very tired and vomiting. <\/p>\n
Sometimes, people think its the flu and might even go to the ER thinking they have a really bad flu, Le Mons said, adding that a simple serum ammonia level test, which can detect the condition, is not routinely done in ERs. <\/p>\n
Its unclear whether Hefford suffered symptoms of her condition. White, who hopes her daughters story will serve as a warning to help save lives, believes protein supplements need more regulation. <\/p>\n
The Australian Medical Association says theres no real health benefit to such supplements. And, while they may not be necessary for most people, theyre not dangerous to most, either. <\/p>\n
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. <\/p>\n
Theres a myth that this disorder only affects children, Le Mons said, noting that one patient reached age 85 before diagnosis. <\/p>\n
Regarding Hefford, Le Mons said that this is not the first time this has happened. Other athletes, who like Hefford were unaware of their condition, have died when a high-protein diet triggered their condition. <\/p>\n
Though there is no cure for urea cycle disorder, abalanced dietis all that is needed for some patients, according to the National Urea Cycle Disorders Foundation. <\/p>\n
Treatment may include supplementation with special amino acid formulas, while in some more severe cases, one of two forms of an FDA-approved drug may be prescribed. When these therapies fail, a liver transplant may become necessary. <\/p>\n
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25-yr-old mom with rare disorder dies eating high-protein diet - myfox8.com<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" MANDURAH, Australia Meegan Hefford, a 25-year-old bodybuilder, was found unconscious on June 19 in her Mandurah, Western Australia, apartment, according toAustralia News 7. Days later, Hefford was pronounced dead Continue reading