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?
    Experienced in Urea Cycle Disorders (UCD)
    Dr. Julius F. Punzalan
    Internal Medicine
    Experienced in Urea Cycle Disorders (UCD)
    Dr. Julius F. Punzalan
    Internal Medicine
    35629 Highway 72 Bldg 3, 
    Salem, MO 
     (49.1 mi)
    573-729-8000
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients

    Julius Punzalan is an Internal Medicine provider in Salem, Missouri. Dr. Punzalan and is rated as an Experienced provider by MediFind in the treatment of Urea Cycle Disorders (UCD). His top areas of expertise are Gerstmann Syndrome, Urinary Tract Infection (UTI), Urinary Tract Infection in Children, and Pneumonia. Dr. Punzalan is currently accepting new patients.

    Advanced in Urea Cycle Disorders (UCD)
    Dana M. Zinn, NP
    Nurse Practitioner
    Advanced in Urea Cycle Disorders (UCD)
    Dana M. Zinn, NP
    Nurse Practitioner
    1547 Commerce Dr, 
    Marshall, MO 
     (99.8 mi)
    660-831-3092
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients

    Dana Zinn is a Nurse Practitioner in Marshall, Missouri. Zinn and is rated as an Advanced provider by MediFind in the treatment of Urea Cycle Disorders (UCD). Her top areas of expertise are Urea Cycle Disorders (UCD), Vitamin D Deficiency, Inappropriate Sinus Tachycardia (IST), and Epidural Lipomatosis. Zinn is currently accepting new patients.

     
     
     
     
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    Experienced in Urea Cycle Disorders (UCD)
    Kayla C. Strodtman, NP
    Nurse Practitioner
    Experienced in Urea Cycle Disorders (UCD)
    Kayla C. Strodtman, NP
    Nurse Practitioner

    The Curators Of The University Of Missouri

    3100 W Broadway, Mizzou Quick Care Broadway, 
    Columbia, MO 
     (55.2 mi)
    573-884-0036
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients

    Kayla Strodtman is a Nurse Practitioner in Columbia, Missouri. Strodtman and is rated as an Experienced provider by MediFind in the treatment of Urea Cycle Disorders (UCD). Her top areas of expertise are Oppositional Defiant Disorder (ODD), Urea Cycle Disorders (UCD), and Chronic Rhinosinusitis with Nasal Polyps (CRSwNP). Strodtman is currently accepting new patients.

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    What are the latest Urea Cycle Disorders (UCD) Clinical Trials?
    A Phase I/II 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 I/II 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: February 21, 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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    Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
    Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
    Enrollment Status: Recruiting
    Publish Date: February 12, 2025

    Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...

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