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Newborn Screening for Inherited Disorders of Galactose Metabolism

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Neonatal Screening for Inborn Errors of Metabolism

Abstract

Screening of newborns for disorders of galactose metabolism has come as a by-product of PKU-screening. It was initiated in 1964 with the introduction of the “metabolite inhibition assay” aimed at the discovery of hypergalactosemia due to deficiency of galactose-1-phosphate uridyltransferase (Segal 1978). Since then, the technique of screening has been diversified, two new defects of galactose metabolism have been discovered (Gitzelmann 1965, 1972), and a number of transferase variant enzymes have been described.

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Abbreviations

Kinase:

Galactokinase (EC 2.7.1.6)

Transferase:

Galactose-1-phosphate uridyltransferase (EC 2.7.7.12)

Epimerase:

Uridine diphosphate galactose 4′-epimerase (EC 5.1.3.2)

ADP:

Adenosine diphosphate

ATP:

Adenosine triphosphate

UDP:

Uridine diphosphate

UDPgalactose:

Uridine diphosphate galactose

UDPglucose:

Uridine diphosphate glucose

UTP:

Uridine triphosphate

NADPH:

Reduced nicotine adenine dinucleotide phosphate

PPi :

Inorganic pyrophosphate

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Authors
  1. R. Gitzelmann
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Editor information

Editors and Affiliations

  1. Universitäts-Kinderklinik, Im Neuenheimer Feld 150, 6900, Heidelberg, Germany

    Horst Bickel  & Gerhard Hammersen  & 

  2. Department of Pediatrics, State University of New York at Buffalo, Childrens Hospital, Acheson Hall, Room 352, 3455 Main Street, Buffalo, N.Y., 14214, USA

    Robert Guthrie Ph.D., M.D. (Professor of Pediatrics and Microbiology) (Professor of Pediatrics and Microbiology)

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© 1980 Springer-Verlag Berlin Heidelberg

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Gitzelmann, R. (1980). Newborn Screening for Inherited Disorders of Galactose Metabolism. In: Bickel, H., Guthrie, R., Hammersen, G. (eds) Neonatal Screening for Inborn Errors of Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67488-4_7

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  • DOI: https://doi.org/10.1007/978-3-642-67488-4_7

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-67490-7

  • Online ISBN: 978-3-642-67488-4

  • eBook Packages: Springer Book Archive

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