16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the prevalence and/or incidence of Classic galactosemia.
Both forms of galactosemia are inherited as autosomal recessive defects and occur in about 1 in 60,000 births in the United States. Up to 1.25% of the population is heterozygous for the classic galactosemia gene. Classic galactosemia results from a defect in the enzyme galactose-1-phosphate uridyl transferase. (See Metabolic pathway in galactosemia.) Galactokinase-deficiency galactosemia, the rarer form of this disorder, stems from a deficiency of the enzyme galactokinase. In both forms of galactosemia, the inability to normally metabolize the sugar galactose (which is mainly formed by digestion of the disaccharide lactose that’s present in milk) causes galactose accumulation.
Source: Professional Guide to Diseases (Eighth Edition), 2005
The term 'prevalence' of Classic galactosemia usually refers to the estimated population of people who are managing Classic galactosemia at any given time. The term 'incidence' of Classic galactosemia refers to the annual diagnosis rate, or the number of new cases of Classic galactosemia diagnosed each year. Hence, these two statistics types can differ: a short-lived disease like flu can have high annual incidence but low prevalence, but a life-long disease like diabetes has a low annual incidence but high prevalence. For more information see about prevalence and incidence statistics.
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