According to a story from ctvnews.ca, a recent treatment with gene therapy appears to have changed the life of thirty year old Josh McQuillin, who has a urea cycle disorder, forever. This rare disorder severely limited his protein intake and overall lifestyle because of the potential risk of toxic ammonia building up in his body. For the first time, Josh has been able to eat food items that would have made him violently ill in the past.
About Urea Cycle Disorders
Urea cycle disorders are a type of hereditary metabolic disorder. They are caused by a genetic mutation that causes a deficiency in one of several critical enzymes which help remove ammonia from the bloodstream as part of the urea cycle. There are several different types of urea cycle disorder which are distinguished by which enzyme is affected. These disorders are present from birth and are probably responsible for a significant number of infant deaths and brain damage. Urea cycle disorder can be difficult to diagnose. Symptoms include seizures, hyperventilation, irritability, cerebral edema, hypothermia, lethargy, and coma. There are also late onset forms of urea cycle disorder. When symptoms appear, prompt treatment is necessary and should be regarded as a medical emergency. Medication to remove nitrogen and dialysis to get rid of ammonia are important. Long term management of urea cycle disorder requires amino acid supplements and a low protein diet. To learn more about urea cycle disorder, click here.
Living Symptom Free
With his new freedom from dietary restrictions, Josh has been experiencing noticeable weight gain for the first time in his life. The patient first noticed changes just two weeks after receiving treatment with gene therapy as part of a clinical trial. Despite eating as much protein as he wishes, Josh’s ammonia levels have not risen in the slightest.
As he no longer has to worry about symptoms, Josh is planning to go on a trip to England later in the spring and will no longer have to worry about meticulous meal-planning for his job in forestry, which can require days in the backcountry without easy access to a hospital.
Clearly the gene therapy that Josh used has the potential to change the lives of thousands of patients like him with urea cycle disorder.