Definicion de galactosemia pdf

For new parents this book is intended for parents with infants who have been diagnosed with galactosemia due to a deficiency of the enzyme galactose1phosphate uridyltransferase or galt. Galactosemia means too much galactose builds up in the blood. Galactosemia clasica galactosemia clasica galactosemia clasica macromoleculas glicosiladas. The main dietary source of galactose is lactose, the principle carbohydrate. Galactosemia definition of galactosemia by the free. 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. Galactosemia british galactosaemia is a rare genetic metabolic disorder that. Galactosemia information for physicians and other health care.

This book will provide an overview of the diagnosis and familiarize you with the diet for galactosemia. Galactosemia, which means galactose in the blood, refers to a group of inherited disorders that impair the bodys ability to process and produce energy from a sugar called galactose. Galactosemia genetic and rare diseases information. Galactosemia definition is a metabolic disorder that is inherited as an autosomal recessive trait and in which galactose accumulates in the blood due to deficiency of an enzyme catalyzing its conversion to glucose. Cifuentescifuentes my, estradavizcaino a, romero r. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate. When people with galactosemia injest foods or liquids containing galactose, undigested sugars build up in the blood. Ictericia, recien nacido, catarata, galactosemias decs. Typically children with galactosemia do not have parents with galactosemia. Galactosemia symptoms, causes, and treatment what is. Galactosemia information for physicians and other health. Galactosemia is sometimes confused with lactose intolerance, but galactosemia is a more serious condition.

This accumulation of galactose can cause serious complications such as an enlarged liver, kidney failure, cataracts in the eyes or brain damage. Duarte galactosemia is a variant of classic galactosemia. Galactosemia genetic and rare diseases information center. If both parents carry a nonworking copy of the gene that can cause galactosemia, each of their children has a 25% 1 in 4 chance of being affected with it. Galactose is present in many foods, including all dairy. Galactosemia patient fact sheet oncofertility consortium.