Galactosemia
Written by Med-Scope
Galactosemia
Galactosemia is an inborn error of metabolism characterized by an inability to convert galactose to glucose.
The classic form is caused by a congenital (an autosomal recessive inheritance found in around one in 75,000 births) absence of galactose L-phosphate uridyl transferase, the enzyme required for the transformation of galactose to glucose and its derivatives.
It is marked by accumulation of galactose-l-phosphate and galactose in the tissues and by enlargement of the liver, cataracts and mental retardation, with vomiting diarrhea, jaundice, poor weight gain, and malnutrition in early infancy. Treatment consists basically of a diet free of lactose and galactose.
If a pregnant woman is a known carrier of galactosemia, it is advisable she exclude lactose and galactose from her diet.
References
Thomas, C.L. 1985. Taber's Cyclopedic Medical Dictionary. F.A. Davis Co. Pub., Philadelphia. 2170.
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