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Galactosemia.

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  • معلومة اضافية
    • نبذة مختصرة :
      In classic I galactosemia, a congenital deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT) causes galactose to accumulate instead of being converted to glucose for energy production. As galactose accumulates in the child’s tissues and organs, it will have a toxic effect and cause various signs and symptoms. Galactosemia means “galactose in the blood.” Galactose is a sugar that may be found alone in foods but is usually associated with lactose, a milk sugar.