Hereditary tyrosinemia in the province of Quebec: Prevalence at birth and geographic distribution

Abstract

Hereditary tyrosinemia is a severe metabolic disorder of the newborn for which a very low prevalence at birth has been reported throughout the world. During a 2‐year period, the Quebec Network of Genetic Medicine has tested blood tyrosine in 81.6 % of newborns. Twelve babies with hereditary tyrosinemia were detected by biochemical screening and two more cases were identified by pediatricians. Prevalence at birth way 0.8 case per 10,000 live births in the province of Quebec as a whole; the Chicoutimi‐Lac St. Jean region was found to have an exceptional concentration of 14.6 caqes per 10,000 live births and a frequency of carriers of 1 in 14 persons. such an experimental screening program helps define health problems in a population.