Learn About Urea Cycle Disorders (UCD)

What is the definition of Urea Cycle Disorders (UCD)?
Urea cycle disorders are genetic conditions that cause a buildup of ammonia in the blood. Normally, ammonia is converted to urea and excreted in the urine. In urea cycle disorders, defects in enzymes prevent urea from being converted to ammonia and excreted, leading to a toxic buildup of ammonia in the blood. There are several types of urea cycle disorders.
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What are the symptoms of Urea Cycle Disorders (UCD)?
Symptoms of urea cycle disorders usually appear shortly after birth. Symptoms of urea cycle disorders include lethargy, lack of appetite, vomiting, irritability, rapid or slowed breathing, and confusion. Untreated urea cycle disorders can lead to seizures, brain swelling, coma, and death.
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What are the different types of Urea Cycle Disorders (UCD)?
What are the current treatments for Urea Cycle Disorders (UCD)?
Treatment for urea cycle disorders is focused on lowering the amount of ammonia in the blood. Treatment for urea cycle disorders may include hemodialysis; medications, such as sodium benzoate, N-carbamylglutamate, and sodium phenylacetate; a low protein diet; and amino acid supplements, such as arginine or citrulline. Treatment for severely-elevated ammonia levels in patients with urea cycle disorders may include liver transplantation.
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What are the latest Urea Cycle Disorders (UCD) Clinical Trials?
HepaStem Long-Term Safety Registry - Registry for Patients Who Have Been Administered HepaStem

Summary: All patients having received at least one infusion of the Investigational Medicinal Product (IMP) HepaStem HHALPC during a previous interventional clinical study conducted by Promethera Biosciences

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Systemic Biomarkers of Brain Injury From Hyperammonemia

Summary: Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and developmental disabilities. The following aims are proposed: Aim 1 of this study will be to determine the chronology of biomarkers of brain injury in response to a hyperammon...

What are the Latest Advances for Urea Cycle Disorders (UCD)?
Outcome of Liver Transplantation for Neonatal-onset Citrullinemia Type I.
ECMO as a Platform for Rapid Ammonia Removal in a Neonate with Multienzyme Urea Cycle Disorder.
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Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.