Urea Cycle Disorder Quiz

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Reviewed By:

Unnati Patel, MD, MSc

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

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.

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Content updated on Jan 19, 2024

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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

Diagnostic Questions for Urea Cycle Disorder

Your doctor may ask these questions to check for this disease:

  • Is your weight gain slower than others your age?
  • Have you noticed or been told that you are acting strangely or differently lately?
  • Do you have headaches or a heavy feeling in your head?
  • Do you feel you fatigued?
  • Are you feeling nauseous or have you been vomiting?

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.

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Symptoms Related to Urea Cycle Disorder

Diseases Related to Urea Cycle Disorder

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This symptom checker site is a great resource to either get an idea of what is happening inside your body or even get a second opinion without incurring another huge bill. It also provides a way to connect with a professional if needed. I really enjoy this site.

Aug 30, 2024 (Female, 40s)

Reviewed By:

Unnati Patel, MD, MSc

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

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.

From our team of 50+ doctors

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