Citrin Deficiency
Medical information you need to know as an adult with citrin deficiency
Overview of the Condition:
Citrin deficiency is a rare metabolic condition in which a chemical called citrin does not work correctly in your body. This can cause ammonia to build up in your blood over time. When ammonia builds up too much, it can cause serious health problems. You can manage citrin deficiency throughout your life with a special diet, a special medical formula, drug therapy, and ongoing health care.
Another name for citrin deficiency is citrullinemia II.
Medical Problems for Babies and Children:
People who have citrin deficiency as adults may have had liver disease when they were babies.
Medical Problems for Teens and Young Adults:
Teens and young adults with citrin deficiency may have repeated episodes of ammonia build-up (also called hyperammonemia).
Some may also have inflammation of the pancreas, fat build-up in the blood or liver, or liver cancer.
If you have an illness, fever, surgery, or are pregnant, contact your health-care provider right away.
Watch for signs of ammonia build-up including: nausea, vomiting, sleepiness, or unusual problems with your mood or thinking. If you have any of these, get medical care right away.
Some teens and young adults with citrin deficiency have anxiety or depression. Counseling and medication can help. If you have anxiety or depression, it is important to get in touch with your health care provider to get treatment.
How to Minimize Medical Problems and Complications:
Follow a low-carbohydrate, high-protein diet recommended by your dietician.
Take drug therapies recommended by your health care providers.
Avoid steroids in medicines or supplements.
Avoid medicines that contain valproic acid, including Depakote®. Check with your doctor to find out which other medicines contain valproic acid.
Keep your immunizations up-to-date.
Stay in regular contact with your health care providers and health specialists.
Fertility and Pregnancy:
Citrin deficiency does not affect your ability to have children.
Genetic counseling can help you and your partner understand the risks to your children. Your doctor can refer you to a genetic counselor who has a special understanding of your health issues.
Pregnant women with citrin deficiency must follow a careful diet with special guidance from a dietician and health care providers.
How To Get Support:
Get education support from teachers and specialists at your school.
Join a support group with people who have citrin deficiency or similar metabolic conditions. This group of health conditions is called urea cycle disorders.
A lot of research is being done on citrin deficiency and other urea cycle disorders. Get up-to-date information about new treatments and discoveries at the Urea Cycle Foundation website: http://nucdf.org/
Resources:
AAP/AAFP/ACP Transition Clinical Report
http://aappolicy.aappublications.org/cgi/reprint/pediatrics;128/1/182.pdf
Transition Toolkit (New England Consortium of Metabolic Programs)
https://newenglandconsortium.org/for-families/transition-toolkit/
Got Transition
http://gottransition.org/
National Urea Cycle Disorders Foundation
http://nucdf.org/
National Institutes of Health – Genetics Home Reference – Citrin Deficiency
http://ghr.nlm.nih.gov/condition/citrullinemia
Genetics Referrals:
Clinical Services
http://www.ncbi.nlm.nih.gov/sites/genetests/clinic?db=genetests
Genetic Services
http://www.acmg.net/gis
What Next?
Now you can fill out the Medical Health Summary, print it, and save it. This will help you keep important medical information in one place.
This Metabolic Condition Basics guide was adapted with permission from the American College of Medical Genetics ACT Sheet