Urea Cycle Disorder

~ A cause of protein-related deaths ~

 

Meegan Hefford, an Australian bodybuilder, has died after consuming large amounts of protein from food and dietary supplements, reports her family. The mom of two had increased her protein intake while preparing for a bodybuilding competition, but doctors discovered too late that she had a rare disorder that prevented her body from properly metabolizing the nutrient.

As per the reports, her death certificate lists the previously undiagnosed condition, called Urea Cycle Disorder, as a cause of death, Perth Now reported Saturday, along with “intake of bodybuilding supplements.”

According to news reports, Hefford’s mother said the healthy and fit 25-year-old had “ramped up her gym sessions and gone on a strict diet earlier this year.” While attending college and working part-time at a hospital, Hefford would sometimes go to the gym twice a day.

Her mother also said she found “half a dozen containers” of protein supplements in Hefford’s kitchen, along with a detailed diet plan including protein-rich foods like lean meat and egg whites.

Hefford was found unconscious and rushed to the hospital on June 19, and was reported brain dead on June 22. It took two days for doctors to discover she had a urea cycle disorder, but she had reportedly complained about feeling lethargic and “weird” earlier in the month. Her mother said she’d worried about Hefford “doing too much at the gym,” and had warned her to slow down.

Urea cycle disorder is an umbrella term for a family of rare genetic disorders that affects about one in 35,000 people in the United States, says Nicholas Ah Mew, MD, director of the Inherited Metabolic Disorders Program at Children’s National Health System’s Rare Disease Institute. (Dr. Ah Mew was not involved in Hefford’s case.)

People with a urea cycle disorder are deficient in one of six enzymes that help remove ammonia – a toxic by-product that’s created when protein is metabolized – from the bloodstream. Normally, ammonia is converted to a compound called urea and is removed from the body via urine. But for people with urea cycle disorders, ammonia can build up in the bloodstream. When ammonia in the blood reaches the brain, it can cause irreversible brain damage or death.

Meegan’s case is a very rare one, which may not affect you. However, it is important that before you take on a lifestyle change, you consult your doctor before you take drastic changes. If you don’t feel well, especially if your workout and dietary routine are so rigorous, never dismiss it; see a medical professional about it instead.   

The Daily Herald

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