Comparison between Amino Acids and Orotic Acid Analysis in the Detection of Urea Cycle Disorders in the Quebec Urinary Screening Program
The Provincial Network of Genetic Medicine started its operations in 1969. The various programs of the network are located in four different regional centers; two are located in Montreal, the mass screening of blood is in Quebec City and the mass screening of urine is in Sherbrooke. The funds to permit such a system come from the Ministère des Affaires Sociales of the Province of Quebec. Our participation in the urinary screening program has allowed us to screen over 700,000 newborns for the detection of inborn errors of metabolism.
KeywordsMass Screening Urea Cycle Orotic Acid Ornithine Transcarbamylase Urea Cycle Disorder
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