Molecular Detection of Galactosemia Mutations by PCR-ELISA

Classic galactosemia is an autosomal recessive disorder caused by the deficiency of galactose 1-phosphate uridyltransferase, GALT (EC 2.7.7.12) (1). It presents with vomiting and diarrhea in neonates within a few days of milk intake. Most patients develop jaundice and hepatic failure. If untreated, it is potentially lethal. Newborn screening for galactosemia is routine in all states in the USA and in many other countries. Elimination of dietary galactose is the main treatment. However, this does not prevent secondary complications such as growth retardation, mental retardation, dyspraxia, cataracts, ataxia, and ovarian failure later in life (2).