European Journal of Pediatrics

, Volume 154, Supplement 2, pp S45–S49 | Cite as

Galactose-1-phosphate in the pathophysiology of galactosemia

  • R. Gitzelmann
Article

Abstract

In galactosemia, galactose-1-phosphate (gal-1-P) is not properly metabolized and accumulates in the fetus and after birth in various tissues when lactose or galactose is ingested. Well-treated galactosemics retain a low level of red cell gal-1-P which increases after breaks of diet. The ester is an indicator of the biogenesis of galactose from glucose and has been considered a pathogenic agent by inhibiting enzymes such as glucose-6-phosphatase, glucose-6-phosphate dehydrogenase, phosphoglucomutase, and glycogen phosphorylase, but the evidence remains presumptive. A futile cycle of galactose phosphorylation and dephosphorylation, and the sequestration of phosphorus in gal-1-P are also suspected to play a role in the pathogenesis of galactosemia.

Key words

Pathophysiology of galactosemia Galactose-1-phosphate uridyltransferase deficiency Endogenous galactose production Self-intoxication with galactose 

Abbreviations

gal-1-P

galactose-1-phosphate

glc-1-P

glucose-1-phosphate

PPi

inorganic pyrophosphate

UDP-gal

uridine diphosphate galactose

UDP-glc

uridine diphosphate glucose

UTP

uridine triphosphate

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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • R. Gitzelmann
    • 1
  1. 1.Division of Metabolism, Department of PediatricsUniversity of ZürichZürichSwitzerland

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