What Is Urea Cycle Disorder And How Did A High Protein Diet Kill A Bodybuilder?

A urea cycle disorder (UCD) is an inherited disease that affects the removal of the waste that is made from breaking down protein. Proteins are the building blocks of life. Everyone needs protein, which is found in foods like dairy products, meat and fish. When a person eats food that contains protein, the body breaks it down into amino acids (the building blocks of protein that are used by the body for growth and tissue repair) and uses only what it needs. It changes the rest into nitrogen, which must then be removed by the body via urine.

In a healthy person, the liver supplies several enzymes to change nitrogen into urea, which is then removed from the body in urine. This entire process is called the urea cycle.

The liver in a person with urea cycle disorder is missing an enzyme necessary to convert nitrogen into urea. As a result, ammonia, which is a highly toxic substance, builds up in the bloodstream and is not removed from the body. Untreated and high amounts of ammonia can cause brain damage, coma and eventually death.

Urea cycle disorders are extremely rare, affecting around one in 35,000.

Symptoms typically appear within the first 24 hours after birth and during childhood, however UCDs can also show up in adults too.

NUCDF site reads "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."

"Ammonia quickly rises if untreated and causes coma and death. Some undiagnosed adults may suffer from psychiatric symptoms like schizophrenia or bipolar disorder."

A bodybuilder has died after consuming excessive amounts of protein which her body could not process properly due to an undiagnosed genetic disorder. 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.

Unaware of the fact that she lived with a urea cycle disorder, which stopped her body from breaking down protein properly and resulted in a building up of ammonia in her blood stream and brain.

Dr Nitin Shori, a GP for Pharmacy2U, told HuffPost UK that "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."

Some treatment options to cure UCD are discussed below:

Dietary Management: Treatment may include supplementation with special amino acid formulas (Cyclinex, EAA, Trio, UCD I&II), developed specifically for urea cycle disorders. Some patients may require individual branched chain amino acid supplementation. New research also suggests that antioxidants may be helpful in minimizing free radical damage to cells in tissue and brain. 

Drug Treatment: Two forms of a drug, phenylbutyrate, are FDA approved for treatment of urea cycle disorders, sodium phenylbutyrate (trade name Buphenyl, powder or pill form) and glycerol phenylbutyrate (trade name Ravicti, liquid form). The medications are administered 3-4 times per day as prescribed by the doctor in order to optimize continual removal of toxic ammonia from the bloodstream. 

Feeding Issues: Children with urea cycle disorders often lack appetite due to excess serotonin in the brain suppressing appetite. Some may benefit from receiving medications and some feedings either via gastrostomy tube (a tube surgically implanted in the stomach) or nasogastric tube (manually inserted through the nose into the stomach.

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