A bodybuilder has died after consuming excessive amounts of protein which her body couldn’t process properly due to an undiagnosed genetic disorder.
According to Yahoo 7 News, 25-year-old Meegan Hefford, from Mandurah in Western Australia, died after starting a protein-rich diet and increasing the intensity of her gym sessions prior to competing in a fitness competition.
Unbeknown to her, she lived with a urea cycle disorder, which stopped her body from breaking down protein properly and resulted in a build up of ammonia in her blood stream and brain
Two days after collapsing in her apartment, she was pronounced dead, leaving behind two young children aged seven and five.
Pictured: Meegan Hefford
What are urea cycle disorders?
Urea cycle disorders are extremely rare, affecting around one in 35,000 people.
Symptoms typically appear within the first 24 hours after birth and during childhood, however UCDs can also show up in adults too.
“Adults often go undiagnosed for years because they have mild versions of the disorder which keeps their system sustained with enough enzymes until a trigger – such as excessive exercise or dieting, or high protein consumption – interferes with enzyme function,” Dr Nitin Shori, a GP for Pharmacy2U, told HuffPost UK.
The genetic disorder is caused by a mutation in the body, which causes a deficiency of one of the six enzymes in the urea cycle, according to the US-based National Urea Cycle Disorders Foundation (NUCDF). These enzymes are responsible for removing ammonia from the blood stream.
The urea cycle is where nitrogen, a waste product of protein metabolism, is removed from the blood and converted to a compound called urea.
Normally, urea is removed from the body via urine, however in urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, which can result in elevated blood ammonia.
Ammonia can then reach the brain through the blood system, where it can cause irreversible brain damage, coma and even death.
As a result of this disorder, it’s important for people to restrict how much protein they eat. In Hefford’s case, she increased her protein intake and also began taking protein supplements which, in the end, proved fatal - causing a build up of ammonia in her blood and accumulation of fluid in her brain.
What are the symptoms?
Symptoms of UCDs can vary from person to person. Episodes of disorientation, confusion, slurred speech, unusual levels of agitation, lethargy and delirium can all present as symptoms, according to Dr Shori.
Adults often live undiagnosed until certain factors such as viruses, high protein intake, excessive exercise, dieting, surgery or drugs interfere with enzyme function, or cause massive amounts of ammonia to be produced.
“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,” reads the NUCDF site.
“Ammonia quickly rises if untreated and causes coma and death. Some undiagnosed adults may suffer from psychiatric symptoms like schizophrenia or bipolar disorder.”
Treatment options
Typically, treatment of urea cycle disorders consists of dietary management to reduce ammonia production, medication and, in some cases, a liver transplant.
According to the European registry and network for Intoxication type Metabolic Diseases (EIMD), it is essential that UCD patients restrict their protein intake.
Patients may also be given supplements with amino acid formulas to help them get essential nutrients.
“Dietary treatment of UCD patients is one of the cornerstones of therapy and needs to be largely individualised,” says the EIMD. “The fine balance between provision of nutritional requirements and metabolic stability warrants a particular expertise and a specialist metabolic dietician should always be involved.”
Some drugs are also used to treat UCDs. According to the NUCDF, sodium phenylbutyrate (trade name Buphenyl) and glycerol phenylbutyrate (trade name Ravicti) can both be used. These medications work by providing alternative pathways for removal of ammonia from the bloodstream and helping to prevent elevated blood ammonia.
When all else fails, a liver transplant may be an option. It is the only known cure of a UCD.