GALT gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Galactose-1-phosphate uridylyltransferase
  • Involved in the metabolism of galactose
Clinical phenotype
(OMIM phenotype no.)
  • Classic galactosemia (GALT) (#230400)
Inheritance
  • Autosomal recessive
Ocular features
  • Cataracts
Visual function
  • Vision loss due to cataracts if untreated
Systemic features
  • Liver dysfunction
  • Developmental delay
  • Intellectual disability
Key investigations
  • Newborn screening for galactosemia
  • Genetic testing: identification of GALT mutations
Management
  • Dietary restriction of galactose
  • Regular monitoring of liver function and development
Therapies under research
  • None currently specified

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References

  1. Jee D, Kang S, Park S. Association of Age-Related Cataract Risk with High Polygenetic Risk Scores Involved in Galactose-Related Metabolism and Dietary Interactions. Lifestyle Genomics. 2022 Dec 24;15(2):55-66.

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Updated on July 8, 2024
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