Neurogenetics pp 111-118 | Cite as

Molecular Detection of Galactosemia Mutations by PCR-ELISA

  • Kasinathan Muralidharan
  • Wei Zhang
Part of the Methods in Molecular Biology™ book series (MIMB, volume 217)


Classic galactosemia is an autosomal recessive disorder caused by the deficiency of galactose 1-phosphate uridyltransferase, GALT (EC (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).


Polymerase Chain Reaction Product Hybridization Reaction Classic Galactosemia Intended Primer Polymerase Chain Reaction Thermal Cycling 
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  1. 1.
    Segal, S., Berry, G.T. (1995) Disorders of galactose metabolis, in The Metabolic Basis of Inherited Disease 1, Scriver, D., Beaudet, A., Sly, W., Valle, D. (eds.), McGraw-Hill, New York, USA, pp. 967–1000.Google Scholar
  2. 2.
    Segal, S. (1995) Galactosemia unsolved. Eur. J. Pediatr. 154, S97–102.PubMedCrossRefGoogle Scholar
  3. 3.
    Elsas, L. J., 2nd and Lai, K. (1998) The molecular biology of galactosemia. Genet. Med. 1, 40–48.PubMedCrossRefGoogle Scholar
  4. 4.
    Lai, K., Langley, S. D., Singh, R. H., Dembure, P. P., Hjelm, L. N., and Elsas, L. J., 2nd. (1996)A prevalent mutation for galactosemia among black Americans. J. Pediatr. 128, 89–95.PubMedCrossRefGoogle Scholar
  5. 5.
    Elsas, L. J., Langley, S., Steele, E., Evinger, J., Fridovich-Keil, J. L., Brown, A., et al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Am. J. Hum. Genet. 56, 630–639.PubMedGoogle Scholar
  6. 6.
    Lahiri, D. K. and Nurnberger, J. I., Jr. (1991) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. 19, 5444.PubMedCrossRefGoogle Scholar

Copyright information

© Humana Press Inc. 2003

Authors and Affiliations

  • Kasinathan Muralidharan
    • 1
  • Wei Zhang
    • 1
  1. 1.Department of Pediatrics, Division of GeneticsEmory University School of MedicineAtlanta

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