Urea Cycle Disorders / le trouble du cycle de l’urée (TCU)
Urea cycle disorders (UCDs) result from any one of six enzyme defects in urea synthesis.
UREA CYCLE ENZYME DEFECTS
• N-acetylglutamate synthetase (NAG)
• Carbamyl-phosphate synthetase (CPS)
• Ornithine transcarbamylase (OTC) Please also see: OTCs
• Argininosuccinate synthetase (AS) (also called citrullinemia)
• Argininosuccinate lyase (AL)
CanPKU+ believes that creating awareness around Urea Cycle Disorder and other rare diseases helps patients…Because Knowledge Leads to Better Health.
When people are aware of a condition, they are more likely to be understanding and supportive. This might be as simple as ensuring that there are appropriate food choices at the next party your child attends, or it might mean that a politician will fight on your behalf for coverage of treatments.
Newborn Screening for OTC - Point-of-care screening and clinical considerations for OTC deficiency: Is NBS ready?
Downloadable Resources for Individuals with UCD
Don't forget to link back to GENERAL DOWNLOADS which have over all downloads for you.
You can also check out the resources under the Research and Patient Support Drop down menu.
General Information and Links
Region or Province Based
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