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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.
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.
Who are the top Urea Cycle Disorders (UCD) Local Doctors?
Mureo Kasahara
Elite in Urea Cycle Disorders (UCD)
Transplant Surgery
Elite in Urea Cycle Disorders (UCD)
Transplant Surgery
Tokyo, JP 

Mureo Kasahara is a Transplant Surgeon in Tokyo, Japan. Kasahara is rated as an Elite expert by MediFind in the treatment of Urea Cycle Disorders (UCD). Their top areas of expertise are Biliary Atresia, Urea Cycle Disorders (UCD), Liver Failure, Liver Transplant, and Hepatectomy.

Elite in Urea Cycle Disorders (UCD)
Elite in Urea Cycle Disorders (UCD)
Zurich, ZH, CH 

Johannes Haberle practices in Zurich, Switzerland. Mr. Haberle is rated as an Elite expert by MediFind in the treatment of Urea Cycle Disorders (UCD). His top areas of expertise are Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, N-Acetylglutamate Synthase Deficiency, Citrullinemia, and Liver Transplant.

 
 
 
 
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Elite in Urea Cycle Disorders (UCD)
Transplant Surgery | General Surgery | Urology
Elite in Urea Cycle Disorders (UCD)
Transplant Surgery | General Surgery | Urology

The Regents Of The University Of California

200 Medical Plz, Suite 214, 
Los Angeles, CA 
Languages Spoken:
English

Gerald Lipshutz is a Transplant Surgeon and a General Surgeon in Los Angeles, California. Dr. Lipshutz is rated as an Elite provider by MediFind in the treatment of Urea Cycle Disorders (UCD). His top areas of expertise are Urea Cycle Disorders (UCD), X-Linked Creatine Deficiency, End-Stage Renal Disease (ESRD), Kidney Transplant, and Simultaneous Pancreas Kidney Transplant.

What are the latest Urea Cycle Disorders (UCD) Clinical Trials?
A Single-arm, Prospective, Multi-center Post-market Clinical Study of Glycerol Phenylbutyrate in Chinese Patients With Urea Cycle Disorders

Summary: Urea cycle disorders (UCD) are rare diseases in China, would lead to high mortality and disability, which require long-term management due to the recurrent symptoms. This multi-center, prospective, single-arm study was designed to assess the efficacy and safety of Glycerol Phenylbutyrate for Chinese pediatric patients with UCD, to provide the additional references and treatment options for Chinese...

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A Phase 1/2/3 First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Efficacy of a Single Intravenous (IV) Administration of ECUR-506 in Males Less Than 9 Months of Age With Genetically Confirmed Neonatal Onset Ornithine Transcarbamylase (OTC) Deficiency

Summary: Ornithine Transcarbamylase (OTC) deficiency, the most common urea cycle disorder, is an inherited metabolic disorder caused by a genetic defect in a liver enzyme responsible for detoxification of ammonia. Individuals with OTC deficiency can build-up excess levels of ammonia in their blood, potentially resulting in devastating consequences, including cumulative and irreversible neurological damage,...