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Galactose disorders: an overview.

J B Holton1

  • 1Department of Clinical Chemistry, Southmead Hospital, Bristol, UK.

Journal of Inherited Metabolic Disease
|January 1, 1990
PubMed
Summary

Disorders of galactose metabolism include galactokinase deficiency (cataracts), UDPgalactose-4-epimerase deficiency (nerve deafness), and the severe Galactose-1-phosphate uridyl transferase deficiency. Uridine may help correct UDPgal depletion in the latter.

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Galactosaemia.

Lancet (London, England)·1995

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Galactose metabolism disorders are clinically significant genetic conditions.
  • Three main disorders are recognized: galactokinase deficiency, UDPgalactose-4-epimerase deficiency, and Galactose-1-phosphate uridyl transferase (GALT) deficiency.

Purpose of the Study:

  • To review the clinical importance and management of galactose metabolism disorders.
  • To highlight the challenges in treating GALT deficiency and explore potential therapeutic avenues.

Main Methods:

  • Literature review of clinical cases and biochemical findings.
  • Analysis of recent evidence regarding UDP-galactose (UDPgal) levels and their implications.

Main Results:

  • Galactokinase deficiency typically causes reversible cataracts with early dietary intervention.
  • UDPgalactose-4-epimerase deficiency is rare, with nerve deafness noted in reported cases.
  • GALT deficiency presents significant long-term challenges, with damage mechanisms unclear; low UDPgal levels and ovarian dysfunction suggest impaired galactoside synthesis.

Conclusions:

  • Early dietary management is crucial for galactokinase deficiency.
  • Uridine administration shows promise in correcting UDPgal depletion in GALT deficiency, with ongoing clinical trials.
  • Further research is needed to elucidate damage mechanisms and optimize treatment for GALT deficiency.

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