Patients, providers, public invited to share messages, materials
The National Urea Cycle Disorders Foundation (NUCDF) and Zevra Therapeutics, Inc. are teaming up again this year to launch an awareness campaign during the month of October to improve the diagnosis of urea cycle disorders (UCDs). Their goal is to highlight the critical importance of promptly checking blood ammonia levels and using proper testing techniques.
A blood ammonia test is essential to uncover elevated ammonia levels (hyperammonemia), the classic sign of a urea cycle disorder. Resources on recognizing and testing for hyperammonemia are featured on the campaign website, checkammonia.com.
Quickly diagnosing UCDs is critical. Toxic ammonia levels can rise rapidly in affected individuals, which, if left untreated, can cause coma and death.
Newborns with severe UCDs typically become catastrophically ill within 36-48 hours after birth. It is estimated that up to 20% of sudden infant death syndrome (SIDS) cases may be attributed to an undiagnosed inborn error of metabolism such as a UCD. Adults with undiagnosed UCDs may present at emergency rooms with staggering, confusion, combativeness, and disorientation that is mistaken for alcohol or drug intoxication, and many die.
The campaign’s primary message is that a blood ammonia test, performed promptly and properly, can save lives. Downloadable campaign resources focus on: (1) recognizing the signs of UCDs and promptly ordering a test, and (2) following proper test procedures.
