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Meaning of GALACTOSEMIA

WordNet Dictionary
 
 Definition: [n]  a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
 
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 See Also: inborn error of metabolism

 

 

Biology Dictionary
 
 Definition: A genetic disease characterized by failure to thrive in infancy, mental retardation, cataracts, and mental retardation. These symptoms are caused by a deficiency of the epimerase enzyme (galactose-1-phosphate uridyl transferase) that normally converts galactose to glucose; the resulting buildup of galactose in the bloodstream causes organ and tissue damage.
 

 

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