UCDs are a group of rare genetic diseases that affect about 1 in 35,000 births in the United States.
UCDs are characterized by potentially toxic elevations of ammonia levels in the blood and brain (hyperammonemia). In people living with UCDs, the liver is unable to metabolize ammonia so that it can be eliminated from the body in the urine. This results in elevated ammonia levels and leads to an accumulation of ammonia in the bloodstream. Excess ammonia can cross the blood–brain barrier and act as a neurotoxin in the brain. Left untreated, hyperammonemia can result in coma, brain damage, and, in some cases, even death.
Ornithine transcarbamylase (OTC) deficiency is the most common UCD subtype. It is passed on from a mother to her child via the X chromosome. In rare cases, OTC can also be passed down from a father to his daughter via the X chromosome. While a parent with the OTC gene is a carrier, they may not know they have OTC until their child is diagnosed. Approximately 20% of carrier females have symptoms of the disorder and rarely may be severely affected in childhood. Symptoms for adults who have OTC deficiency can range from migraines and nausea to confusion, ataxia, and even hallucinations.1
If a positive result is identified, testing for your patient’s family members is available.
Simply follow the ordering instructions, selecting only the gene(s) you are interested in testing for the family member. The partner code will automatically be added with the order.
Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.
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While Horizon Therapeutics provides financial support for this program, tests and services are performed by independent third parties. Healthcare professionals must confirm that patients meet certain criteria to use the program. Horizon Therapeutics receives de-identified patient data from this program, but at no time does Horizon Therapeutics receive patient identifiable information. Horizon Therapeutics receives contact information for healthcare professionals who use this program. Genetic testing and counseling are only available in the US. Healthcare professionals and patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any Horizon Therapeutics product.
1. Ornithine transcarbamylase deficiency. National Organizations for Rare Disorders (NORD) website. https://rarediseases.org/rare-diseases/ornithine-transcarbamylase-deficiency. Accessed March 20, 2019.