Recordati and National Urea Cycle Disorders Foundation Launch Initiative

Rare Daily Staff

Biopharmaceutical Recordati Rare Diseases announced a new Check Ammonia awareness initiative created in collaboration with the National Urea Cycle Disorders Foundation.

The campaign is intended to help healthcare practitioners recognize the signs and symptoms of hyperammonemia in infants, children, and adults, act quickly to test ammonia levels, and to call a metabolic geneticist, as high ammonia levels can be toxic and may be the result of a rare metabolic disease.

“Hyperammonemia due to inborn errors of metabolism can strike at any age,” said Cynthia Le Mons, executive director of National Urea Cycle Disorders Foundation. “It’s our hope that the Check Ammonia initiative will be a valuable resource for medical professionals to help them recognize the early signs of hyperammonemia in infants, children, and adults so patients can receive swift intervention to prevent coma and death.”

Hyperammonemia is a metabolic condition characterized by excess ammonia in the blood, can be life-threatening and may affect patients at any age. Clinical signs and symptoms of hyperammonemia are typically neurological in origin, but they can be generally nonspecific and may suggest several diagnostic pathways. The clinical presentation of neonatal hyperammonemia, which can mimic sepsis, includes non-specific symptoms that are mainly neurological in origin. Hyperammonemia in infants, children, and adults may be more episodic, difficult to recognize.

The causes of hyperammonemia are diverse. Some of the more common causes include liver disease, reactions to drugs, hemolytic disease, or gastrointestinal bleeds and urea cycle disorders, or other inborn errors of metabolism.

Early detection can be a challenging, but it is critical for healthcare practitioners to suspect hyperammonemia and quickly test for the condition—especially with any unexplained alteration in consciousness or encephalopathy. Delayed diagnosis or treatment of hyperammonemia, regardless of cause, can lead to neurological damage and is potentially fatal.

The Check Ammonia initiative includes a website that provides educational and supportive resources for healthcare practitioners. The website is designed to help them quickly recognize the signs and symptoms of hyperammonemia; find out when, why, and how to test for ammonia; and to help connect them with metabolic geneticists in their area.

“In infants, children, and adults, hyperammonemia requires early detection and prompt intervention from medical professionals,” said Paul Stickler, vice president of Commercial Operations at Recordati Rare Diseases. “Our goal is to help physicians quickly identify the condition by recognizing the signs and symptoms of hyperammonemia, checking patient ammonia levels, and consulting with a metabolic geneticist to determine the next steps.”

November 29, 2017