Writer: Joy Stephenson-Laws
Fitness fanatics, crash-dieters may want to test for urea cycle disorder.
Meegan Hefford was a 25-year-old bodybuilder competitor and mother of two. She seemed to be the perfect picture of health. As she prepared for an upcoming competition, Meegan visited the gym religiously and maintained a strict diet that included egg whites and protein supplements.
Meegan reportedly told her mother she had been feeling “weird” and tired. Her mother told her she should take it easy, but it was too late. Meegan was found unconscious in her apartment, and she was rushed to the hospital. She was declared brain dead and died two days later. The cause of death is believed to be urea cycle disorder.
What is urea cycle disorder?
In a nutshell, it is a genetic disorder that makes it difficult for a person to metabolize the waste products of protein.
According to the National Urea Cycle Disorders Foundation, the disorder is “caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the bloodstream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to a compound called urea in the blood. Normally, the urea is transferred into the urine and removed from the body. In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia).” Hyperammonemia may cause brain damage, coma and death.
The severity of urea cycle disorder varies and, as a result, may go undiagnosed in some cases. “Adults often go undiagnosed because they have mild urea cycle disorders which allow them to produce enough of the urea cycle enzymes to effectively remove ammonia until a stressor interferes with enzyme function, or causes massive amounts of ammonia to be produced. These adults may have subtle symptoms in their lifetime that go unrecognized or unheeded,” the foundation reports.
In Meegan’s unfortunate case, the stressor of excessive protein intake through diet and supplements is what likely caused her death.
“Seemingly normal adults with undiagnosed urea cycle disorders may present at emergency rooms with staggering, confusion, combativeness, and disorientation that is mistaken for alcohol or drug intoxication,” the foundation states.
Along with excessive protein intake, other stressors of urea cycle disorder include the following:
• Excessive exercise or dieting.
• Certain drugs, including valproic acid (used to treat seizures and bipolar disorder), prednisone (a steroid), and other corticosteroids.
How common is urea cycle disorder?
The estimated incidence of urea cycle disorders is about 1 in 10,000 people, and 1 in 8,500 births, according to the foundation. Newborns with severe mutations become “catastrophically ill” within 36 to 48 hours of birth.
“Because many cases of urea cycle disorders remain undiagnosed and/or infants born with the disorders die without a definitive diagnosis, the exact incidence of these cases is unknown and underestimated,” the foundation reports. “It is believed that up to 20 percent of sudden infant death syndrome (SIDS) cases may be attributed to an undiagnosed inborn error of metabolism such as urea cycle disorder.”
How can we be proactive?
Although there is no cure, a liver transplant corrects the disorder in most cases. But getting a transplant for a vital organ is easier said than done.
Whole genome sequencing is an option. Discovering you have defective genes is not a bad thing. You can use this information to be proactive about hyperammonemia and take steps to avoid the consequences.
Basic lab tests also may help diagnose urea cycle disorder. These tests measure substances, such as blood ammonia, plasma amino acids, and urine organic acids, that reflect how well the urea cycle is working.
If you are a fitness competitor or making drastic changes to your diet, it is especially important to incorporate the above testing, as well as nutritional testing, to know the levels of essential nutrients such as protein, vitamins, and minerals in your body.
To learn more about treatment options for urea cycle disorder, including supplements for removal of ammonia from the bloodstream, go to nucdf.org/ucd_treatment.htm.
In my opinion, the best way to be proactive about your health is to know what is going on with your body—no matter how good you look or feel.
An informed health care consumer is a healthy consumer. Always do appropriate research, and ask your doctor informed questions. Never be afraid or intimidated to ask any questions you may have.
Enjoy your healthy life.