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Galactosemia.
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- المؤلفون: Farber, Phillip A., Ph.D.
- المصدر:
Magill’s Medical Guide (Online Edition), 2023. 2p.
- الموضوع:
- 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.
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