Urea Cycle Disorders

Overview

4.6 out of 5 (13 Reviews)

Credits

1.50

Post Assessment Questions

9

Expiration Date

28 Feb 2026

Last Reviewed

1 Mar 2023

Estimated Time To Finish

90 Minutes


 
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Activity Description

Urea cycle disorders are inborn errors of metabolism resulting from defects in one of the enzymes or transporter molecules involved in the hepatic removal of ammonia from the bloodstream. Removal of ammonia from the bloodstream normally occurs via its conversion to urea, which is then excreted by the kidneys. Consequently, urea cycle disorders lead to an accumulation of ammonia. Ammonia is extremely toxic, particularly to the central nervous system. Newborns with severe mutations in any one of the first four enzymes of the urea cycle can become catastrophically ill within 36 to 48 hours of birth despite appearing normal at birth. It is therefore possible for a newborn to be discharged from the hospital before signs of urea cycle disorders develop. The newborn may subsequently develop signs that go unrecognized at home. Hyperammonemia is key to the diagnosis of urea cycle disorders and treatment should not be delayed while a definitive diagnosis is sought. This activity reviews the evaluation and management of urea cycle disorders and highlights the role of interprofessional team members in collaborating to provide well-coordinated care and enhance outcomes for affected patients and families.

Target Audience

This activity has been designed to meet the educational needs of physicians.

Learning Objectives

At the conclusion of this activity, the learner will be better able to:

  • Explain why the potential for urea cycle disorders poses a risk to early discharge of seemingly healthy newborns.
  • Explain how high serum ammonia level should be managed in a newborn.
  • Explain the management of urea cycle disorders.
  • Explain the importance of improving coordination amongst the interprofessional team to enhance care for patients affected by urea cycle disorders.

Disclosures

StatPearls requires everyone who influences the content of an educational activity to disclose relevant financial relationships with ineligible companies that have occurred within the past 24 months. All relevant conflict(s) of interest have been mitigated. Hover over contributor names for financial disclosures. None of the planners of this educational activity have any relevant financial relationships to disclose.

COMMERCIAL SUPPORT: This activity has received NO commercial support.

Continuing Education Accreditation Information


This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of the Quillen College of Medicine, East Tennessee State University, and StatPearls, LLC. The Quillen College of Medicine, East Tennessee State University is accredited by the ACCME to provide continuing medical education for physicians.

Quillen College of Medicine, East Tennessee State University designates this activity for a maximum of 1.50 AMA PRA Category 1 CreditsTM. Physicians should only claim credit commensurate with the extent of their participation in the activity.

This activity is reported to the following Maintenance of Certification (MOC) boards:
American Board of Internal Medicine
  • Internal Medicine
  • Nephrology
American Board of Pathology
  • Chemical Pathology
  • Molecular Genetic Pathology
American Board of Pediatrics
  • General Pediatrics
  • Pediatric Nephrology

Instructions for Credit

  1. Register for the activity and create a StatPearls login.     
  2. Review the target audience, learning objectives, and disclosure information.
  3. Study the educational content in the activity.
  4. Choose the best answer to each activity test question. To receive credit, you must pass the test questions with a minimum score of 100%.
  5. Complete the post-activity assessment.
  6. Obtain a certificate.

For information on the applicability and acceptance of continuing education credit for this activity, please consult your professional licensing board.

Disclaimer

Faculty may discuss investigational products or off-label uses of products regulated by the US Food and Drug Administration. Readers should verify all information before employing any therapies described in this educational activity.

The information provided for this activity is for continuing education purposes only and is not meant to substitute for the independent medical/clinical judgment of a healthcare provider relative to diagnostic and treatment options of a specific patient’s medical condition. The information presented does not necessarily reflect the views of StatPearls or any commercial supporters of educational activities on statpearls.com. StatPearls specifically disclaims responsibility for any adverse consequences resulting directly or indirectly from information in the course, for undetected error, or through a participant's misunderstanding of the content.

Cancellation Policy: Cancellations must be received in writing and a money-back guarantee is provided if not completely satisfied.

  • StatPearlsand and Quillen College of Medicine, East Tennessee State University reserve the right to cancel any course due to unforeseen circumstances. StatPearls andQuillen College of Medicine, East Tennessee State University will not be responsible for other expenses incurred by the participant in the unlikely event that the program is canceled.

Medium or Media Used:

  • Computer Requirements: Internet Access
  • E-mail Address

Equal Opportunity

  • StatPearls andQuillen College of Medicine, East Tennessee State University are Equal Opportunity/Affirmative Action/Equal Access Institutions. 

 

Media Usage Rights

The contributors and editors of StatPearls have attested that all associated media (images and video) have been legally cleared for use with this activity.  All copyrights are reserved.

  • Name: 'UCDs_organic.jpg' Attribution: Contributed by William Stone, MD

Reviews

Gibi G. on 12/7/2021

Dr.Ayodhyaprasad S. on 7/8/2022

K.Navanitha R. on 10/9/2022

Manish Kumar S. on 8/6/2022

SYED M. on 12/4/2022

Mark K. on 12/24/2022

joanna b. on 1/8/2023

Kurni R. on 1/20/2023

Please it would be more helpful if complete treatment of UCDs with doses available,thank you

Arelly J. on 1/20/2023

Gautam P. on 3/10/2023

Dr Jagveer S. on 4/13/2023

Ajay P. on 5/25/2023

Adithya nikhileshwar B. on 6/4/2023

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