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- W2080167503 abstract "A deficiency of each of the three enzymes important in galactose metabolism, galactose-1-phosphate uridyltransferase (GALT), galactokinase (GALK) and UDP-galactose 4′-epimerase (GALE), may result in disease with hypergalactosemia. Classic galactosemia due to severe GALT deficiency produces a multiorgan toxicity syndrome that is usually lethal with continual lactose ingestion in the first month of life. Cessation of dietary lactose will usually allow the acute complications of poor growth and feeding, jaundice, liver disease, cataracts, and overt encephalopathy to disappear. However, long-term complications involving the brain, ovaries and bone appear later in life despite dietary treatment. The etiology is unknown and is the subject of current investigation. The severe form of GALE deficiency is extremely rare and resembles GALT deficiency following lactose exposure in the neonatal period. Most patients have an asymptomatic form. The GALK deficiency is also very rare and largely results in cataracts which may be prevented if a lactose restricted diet is started early in life." @default.
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- W2080167503 date "1968-04-01" @default.
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- W2080167503 title "Uptake and oxidative utilization of glucose, fructose and galactose by rat mast cells" @default.
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- W2080167503 doi "https://doi.org/10.1016/0006-2952(68)90282-7" @default.
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