Urea Cycle Disorders (UCD)
A urea cycle disorder is a condition where the body cannot properly remove ammonia, a waste product made when we digest protein, because an enzyme in the urea cycle is missing or not working correctly. This causes ammonia to build up in the blood, which can be harmful, so treatment focuses on keeping ammonia levels safe. https://nucdf.org/about-ucd/what-is-a-ucd/
Common symptoms of a urea cycle disorder can include tiredness, confusion, nausea, vomiting, or irritability, and they often appear after eating foods high in protein or during illness when the body is under stress.
A urea cycle disorder is usually diagnosed with blood and urine tests that check for high ammonia levels and certain amino acids. Doctors may also use genetic testing to confirm the specific enzyme problem.
Glycerol phenylbutyrate
GLYCEROL PHENYLBUTYRATE
Glycerol phenylbutyrate is a nitrogen-binding agent indicated for chronic management of patients with urea cycle disorders (UCDs) who cannot be managed by dietary protein restriction and/or amino acid supplementation alone. Glycerol phenylbutyrate must be used with dietary protein restriction and, in some cases, dietary supplements. glycerol phenylbutyrate package insert
Patient Resources
- National Organization for Rare Disorders (NORD) supports patient advocacy, education, and research.
- The National Urea Cycle Disorders Foundation is a non-profit organization dedicated to the identification, treatment and cure of urea cycle disorders. NUCDF is a nationally recognized resource of information and education for families and healthcare professionals.
- The Urea Cycle Disorders Consortium (UCDC) consists of a team of physician scientists, neuropsychologists, nurses, genetic counselors, research staff, and patient advocates throughout the US, working together to improve the lives of people with urea cycle disorders.
