Galactosemia genetic and rare diseases information center. Galactosemia information for physicians and other health care. Galactosemia information for physicians and other health care professionals definition galactosemia is an inherited defect of galactose metabolism caused by an enzyme deficiency that prevents proper metabolism and utilization of galactose, or milk sugar. Ictericia, recien nacido, catarata, galactosemias decs. Apr 18, 2011 i have recently read your book and must congratulate you on the most informative and revolutionary contents. Tratamiento nutricional del paciente pediatrico y adolescente con galactosemia. Cifuentescifuentes my, estradavizcaino a, romero r. The main dietary source of galactose is lactose, the principle carbohydrate. Galactosemia patient fact sheet oncofertility consortium. Galactose is a breakdown product of lactose, which is most commonly found in milk products. Duarte galactosemia is an inherited condition associated with diminished ability to metabolize galactose due to a partial deficiency of the enzyme galactose1phosphate uridylyltransferase. A teachers guide to galactosemia this handbook will help your childs teacher understand galactosemia. Galactosemia is a rare genetic disorder that affects how your body metabolizes galactose.
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