What is citrin deficiency?
Citrin deficiency is an inherited metabolic genetic condition that is also a secondary urea cycle disorder. Patients typically do not like food containing a lot of carbohydrates such as rice, bread, or pasta. Instead, they like food containing fat and protein such as meat, milk, dairy products, deep-fried food, and nuts. Patients can generally lead to a normal life with proper diet management and monitoring by a doctor who knows how to handle the condition.
What is citrin deficiency?
Citrin deficiency is an inherited metabolic genetic condition that is also a secondary urea cycle disorder. Patients typically do not like food containing a lot of carbohydrates such as rice, bread, or pasta. Instead, they like food containing fat and protein such as meat, milk, dairy products, deep-fried food, and nuts. Patients can generally lead to a normal life with proper diet management and monitoring by a doctor who knows how to handle the condition.
Diagnosed with citrin deficiency?
Diagnosed with citrin deficiency?
Has your child or yourself recently been diagnosed with citrin deficiency? We understand that it can be difficult to know where to begin. To help ease this transition, we’ve compiled a collection of essential resources and information to guide you through the first steps. We want you to know that you are not alone on this journey. Welcome to our supportive and compassionate community, where we are here to help and support each other every step of the way.
Life Stages
Whether you have been newly diagnosed with citrin deficiency, or require tips and advices, we are ready to provide you with the information, broken down into different life stages such as infancy, toddlers, teenagers, adults, and more. Click on the icons to learn more.
Infants
Toddlers
Children
Teenagers
Adults
Join our patient registry
Citrin Foundation is building a patient community.
Currently, not a lot has been understood about citrin deficiency. Registering with our patient community will help scientists better understand the condition and its manifestations, and allow doctors to provide appropriate treatments for their patients. Understanding the needs of the patients will also allow us to suggest more tips to help you manage citrin deficiency in your day-to-day life.
In January 2023, we launched our global peer support community. Here are some things you can expect from it:
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An informal WhatsApp group of other parents and adult patients where you can exchange ideas and build a support network.
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Digital peer support meetings facilitated by the Foundation.
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A chance to have a regular point of contact with the patient engagement team.
Please be advised that the peer support group is only available to members registered with the Foundation. If you have not registered with us, you may do so here.
Do you require any support, have any questions or concerns about the condition, or do you simply wish to talk to someone?
For all members of our patient community, our Foundation offers 1 -1 calls with our Patient Engagement and Clinical Program Manager, Shaima Alterkawi. Simply fill out the registration form below to set up a 1 -1 call with Shaima, and if you have any questions please email us at patients@citrinfoundation.org
Please be advised that the 1 – 1 Support Call is only available to members registered with the Foundation. If you have not registered with us, you may do so here.
