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
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1. Ornithine transcarbamylase deficiency. National Organizations for Rare Disorders (NORD) website. https://rarediseases.org/rare-diseases/ornithine-transcarbamylase-deficiency. Accessed March 20, 2019.