Urea Cycle Disorders (UCD) Overview

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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)?

Common conditions include: Arginase Deficiency, Argininosuccinic Aciduria, Carbamoyl Phosphate Synthetase 1 Deficiency, Citrullinemia

    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)
    Mureo Kasahara
    Transplant Surgery
    Elite in Urea Cycle Disorders (UCD)
    Mureo Kasahara
    Transplant Surgery
    Setagaya, JP 

    Mureo Kasahara is a Transplant Surgeon in Setagaya, 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)
    Dr. Brendan H. Lee
    Medical Genetics | Pediatrics
    Elite in Urea Cycle Disorders (UCD)
    Dr. Brendan H. Lee
    Medical Genetics | Pediatrics

    Texas Childrens Physician Group

    6651 Main St, 
    Houston, TX 
    832-826-3000
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients

    Brendan Lee is a Medical Genetics specialist and a Pediatrics provider in Houston, Texas. Dr. Lee is rated as an Elite provider by MediFind in the treatment of Urea Cycle Disorders (UCD). His top areas of expertise are Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), Osteogenesis Imperfecta, and Spondyloepimetaphyseal Dysplasia Strudwick Type. Dr. Lee is currently accepting new patients.

     
     
     
     
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    Elite in Urea Cycle Disorders (UCD)
    Johannes Haberle
    Elite in Urea Cycle Disorders (UCD)
    Johannes Haberle
    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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    What are the latest Urea Cycle Disorders (UCD) Clinical Trials?
    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
    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
    Enrollment Status: Recruiting
    Publish Date: September 30, 2025
    Intervention Type: Genetic
    Study Phase: Phase 1/Phase 2

    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,...

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    Assessment of Liver Metabolic Alterations in Vivo in Patients With Citrin Deficiency and Healthy Subjects by Metabolic Labeling With Stable Isotopes
    Assessment of Liver Metabolic Alterations in Vivo in Patients With Citrin Deficiency and Healthy Subjects by Metabolic Labeling With Stable Isotopes
    Enrollment Status: Recruiting
    Publish Date: September 18, 2025
    Intervention Type: Other
    Study Phase: Not Applicable

    Summary: Citrin is an aspartate-glutamate transporter in the liver that facilitates the urea cycle pathway for ammonia detoxification via ureagenesis. It is also thought to be involved in liver energy metabolism as a component of the malate-aspartate shuttle. The clinical presentation in patients supports the hypothesis that liver glycolytic, gluconeogenic and lipogenic functions are compromised in citrin ...

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