Nonenzymatically Galactosylated Serum Albumin in a Galactosemic Infant

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Abstract
Galactosemia is a molecular disease of genetic origin that is characterized by a deficiency of galactose-1-phosphate uridyltransferase.1 , 2 The resulting severe impairment of galactose metabolism has been recognized for over half a century, and the frequency of this disorder is estimated to be one to four in 100,000 births.3 , 4 Generally, the biochemical phenotype includes elevated concentrations of galactose, galactose-1-phosphate, and galactitol in tissue and body fluids.2 In neonates the clinical sequelae consist of vomiting, jaundice, hepatosplenomegaly, and death, and in surviving infants cirrhosis of the liver, mental retardation, and cataracts occur as chronic complications if dietary galactose is not restricted. 2 , 3 , 5 Sepsis . . .