Baylor Genetics and Horizon Therapeutics have partnered together to offer genetic testing at no charge for individuals who may be
carriers of genes associated with urea cycle disorders.
Urea cycle disorders (UCD) are complex inborn errors of metabolism that lead to excess levels of ammonia in the body that can
become life threatening if not treated. UCDs are caused by defects in any of the six enzymes that are involved in the urea cycle,
which are encoded by the CPS1, NAGS, OTC, ASS1, ASL, ARG1, SLC25A13, and SLC25A15 genes. Defects in the transporter proteins
that are responsible for transporting metabolites into or out of the mitochondria while aiding in the production of ammonia, could
also lead to UCD.
Symptoms include low energy levels, heavy breathing, cognitive impairment, and vomiting. Patients who could benefit from genetic
testing include those with clinical or biochemical features suggestive of a UCD, family members of a patient affected by a UCD,
children with a UCD or suspected UCD diagnosis, and mothers with ornithine transcarbomylase (OTC) with mild or no symptoms.
Do you think your patient may have a UCD? Genetic testing can help you and your patient understand the cause of a UCD and provide
information about risks to family members.