Signs and symptoms of urea cycle disorders (UCDs) can vary from person to person.
Genetic testing may identify affected enzymes that can cause a urea cycle disorder (UCD). A sample is taken and sent to a laboratory where the patient’s DNA is analyzed to identify a defective gene.
Genetic testing and counseling are vital to optimizing patient outcomes by assisting in assessing risk, diagnosing family members, and helping inform disease management decisions.1-3 Identifying affected family members prior to disease presentation allows measures to be taken to prevent hyperammonemia.3
Although genetic testing is important, identifying UCDs in newborns can be challenging. Newborn screening tests for UCDs vary state to state, and not all UCD subtypes have a newborn screening test.3
Ornithine transcarbamylase (OTC) deficiency is the most common UCD subtype. However, the only states that provide OTC deficiency newborn screening are3,4
See how genetics can impact patients and families
A no-cost genetic testing option can help you and your patient understand the cause of a UCD
1. Fujisawa D, Mitsubuchi H, Matsumoto S, et al. Early intervention for late-onset ornithine transcarbamylase deficiency. Pediatr Int. 2015;57(1):e1-e3. 2. National Organization for Rare Disorders. The Physician’s Guide to Urea Cycle Disorders. Accessed March 23, 2020. https://rarediseases.org/physician-guide/urea-cycle-disorders/ 3. Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea Cycle Disorders Overview. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; April 29, 2003. 4. Lichter-Konecki U, Caldovic L, Morizono H, Simpson K, Ah Mew N, MacLeod E. Ornithine transcarbamylase deficiency. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; August 29, 2013.