UREA CYCLE DISORDERS
Hello, my name is Michaela Garstin and I'm the Chair for UCDs.
We found out our daughter has Citrullinemia (a type of UCD) through newborn screening when she was a week old. She's six years old now and has been on a low-protein diet her whole life.
I like to say that she's my litte chef because she loves cooking and trying all kinds of new low-protein food. You can often find us trying a new recipe at home or dining at a restaurant, carefully watching her protein intake of course!
I'm looking forward to helping fellow Canadians in the UCD community. Please feel free to reach out to me at ucds@canpku.org.
Join our UCD Facebook group to connect with other Canadian families!
What is a UCD?
A urea cycle disorder, or UCD, is a genetic disorder that a child is born with. The child inherits a defective gene(s) from their parents. People can be diagnosed with a UCD at any point in their life.
When food that has protein in it enters the body, it’s broken down in the digestive tract. In a person with a healthy urea cycle in their liver, toxic ammonia is turned into urea so the body can get rid of it naturally.
When a person has a UCD, the urea cycle can’t change the ammonia into urea as well as it should. Ammonia builds up in the blood, and can travel to the brain, because the body can’t get rid of it.Image from Horizon Therapeutics
Metabolic stressors – viruses, high protein intake, excessive exercise or dieting, surgery or a drug (valproic acid, prednisone or other corticosteroid – can create excessive ammonia, resulting in severe neurological symptoms.
Symptoms Common symptoms of high ammonia levels include:
These symptoms can be a sign of a hyperammonemic crisis (extremely high levels on ammonia), which is very serious and needs immediate medical attention because it could cause coma, brain damage of even death. Other symptoms of UCDs include:
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Treatment
There are options to help control high ammonia levels, including:
UCDs are genetic
UCDs happen when one or both parents pass down a defective gene that doesn’t work properly in their child. Rarely, a UCD is caused by a random mutation.
OTC is the most common type of UCD. It is x-linked, which means the gene is typically passed down from a mother to her child. Unfortunately, this condition is not included in newborn screening testing in Canada.
The other UCDs are autosomal recessive, which means that two parents, who are both carriers, pass down the gene to their child. Only Citrullinemia and ASL are included in newborn screening in Canada.
Types of UCDs
The name of the UCD is based on which enzyme or transporter isn’t working properly in the urea cycle:
Learn more about OTC – meet Kate Vinokurov
Resources |
Fact Sheet on UCD - Nutricia Point-of-care screening and clinical considerations for OTC deficiency: Is NBS ready? UCD Food Guide - Abbott Educators Guide to UCDs - National Urea Cycle Disorders Foundation Other CanPKU+ resources are available under general downloads. You can also check out the resources under the Research and Patient Support Drop down menu. |
Videos
Behind the Mystery: Urea Cycle Disorders
What is a Urea Cycle Disorder? - Horizon Therapeutics
Mitchell's story of a rare genetic disorder and clinical trials participation - National Urea Cycle Disorders Foundation
Zoe's story: Swift identification of elevated ammonia levels is needed to save lives - National Urea Cycle Disorders Foundation
Other websites |
National Urea Cycle Disorder Foundation (USA) Urea Cycle Disorders Consortium (USA) | Connecting Families UCD Foundation (USA) UCDs in Common (USA) |
Learn more about the important research being conducted on the US-based National Urea Cycle Disorders Foundation website.
Urea Cycle Disorders over time: What we’re learning from a natural history study
Suggested guidelines for the diagnosis and management of urea cycle disorders
The management and clinical outcomes of pregnancies in women with urea cycle disorders
Current clinical studies
In the news
Canadian news
Liver transplant saves young Moose Jaw boy's life
New clinical trial unit performs Canada's first gene therapy for urea cycle disorder
Promising gene therapy for B.C. man with rare genetic disease
International news
Yeast genetics collaboration yields hope for improved diagnosis of urea cycle disorders
Protein drinks should carry warning after boy died, says coroner
How protein shakes triggered a teen's death, now prompt calls for life-saving warnings
Why a bodybuilder's death has been blamed on excessive protein shakes
Father of high school quarterback Robbie Roper speaks out about the real cause of player's death
Australian bodybuilder with rare disorder dies from high-protein diet
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