Urea Cycle Disorder Quiz
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Poor feeding
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What is Urea Cycle Disorder?
Urea cycle disorders are a group of genetic conditions that affect the body's ability to remove ammonia, a waste product of protein metabolism. This leads to toxic ammonia buildup, which can cause symptoms ranging from lethargy and vomiting to severe neurological damage. Symptoms usually appear shortly after birth, but milder forms may present later in life. The disorder is caused by mutations in any of the genes involved in the urea cycle.
Typical Symptoms of Urea Cycle Disorder
- Breathing with open mouth and gasping motions
- Seizure
- Unable to gain weight
- Headache
- I noticed or have been told that I am acting strangely or differently lately
- Headache on one side only
- Fatigue or low energy
- Nausea or vomiting
Diagnostic Questions for Urea Cycle Disorder
Your doctor may ask these questions to check for this disease:
- Are you breathing through your open mouth with gasping motions?
- Have you experienced any seizures?
- Is your weight gain slower than others your age?
- Do you have a headache?
- Have you noticed or been told that you are acting strangely or differently?
Treatment of Urea Cycle Disorder
There is no cure for urea cycle disorders, but symptoms can be managed through dietary modifications and medications. Treatment typically involves a low-protein diet to limit ammonia production, along with medications that help to remove ammonia from the bloodstream. In some severe cases, liver transplantation may be considered. Regular monitoring by a specialist like a gastroenterologist is crucial to adjust dietary and medical interventions as needed.
Reviewed By:
Unnati Patel, MD, MSc (Family Medicine)
Dr.Patel serves as Center Medical Director and a Primary Care Physician at Oak Street Health in Arizona. She graduated from the Zhejiang University School of Medicine prior to working in clinical research focused on preventive medicine at the University of Illinois and the University of Nevada. Dr. Patel earned her MSc in Global Health from Georgetown University, during which she worked with the WHO in Sierra Leone and Save the Children in Washington, D.C. She went on to complete her Family Medicine residency in Chicago at Norwegian American Hospital before completing a fellowship in Leadership in Value-based Care in conjunction with the Northwestern University Kellogg School of Management, where she earned her MBA. Dr. Patel’s interests include health tech and teaching medical students and she currently serves as Clinical Associate Professor at the University of Arizona School of Medicine.
Yoshinori Abe, MD (Internal Medicine)
Dr. Abe graduated from The University of Tokyo School of Medicine in 2015. He completed his residency at the Tokyo Metropolitan Health and Longevity Medical Center. He co-founded Ubie, Inc. in May 2017, where he currently serves as CEO & product owner at Ubie. Since December 2019, he has been a member of the Special Committee for Activation of Research in Emergency AI of the Japanese Association for Acute Medicine. | | Dr. Abe has been elected in the 2020 Forbes 30 Under 30 Asia Healthcare & Science category.
Content updated on Sep 17, 2024
Following the Medical Content Editorial Policy
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See full list
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Link to full study:
https://www.medrxiv.org/content/10.1101/2024.08.29.24312810v1References
Ah Mew N, Simpson KL, Gropman AL, et al. Urea Cycle Disorders Overview. 2003 Apr 29 [Updated 2017 Jun 22]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1217/
https://www.ncbi.nlm.nih.gov/books/NBK1217/Urea Cycle Disorders - WebMD
https://www.webmd.com/children/urea-cycle-disorders