GALK1 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Galactokinase 1
  • Involved in the metabolism of galactose
Clinical phenotype
(OMIM phenotype no.)
Inheritance
  • Autosomal recessive
Ocular features
  • Cataracts
Visual function
  • Progressive vision impairment due to cataracts
Systemic features
  • No associated systemic features
Key investigations
  • Slit-lamp examination: lens opacities
  • Genetic testing: identification of GALK1 mutations
Management
  • Dietary restriction of galactose
  • Early surgical intervention for cataract removal
Therapies under research
  • None currently specified

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References

  1. Yasmeen A, Riazuddin SA, Kaul H, Mohsin S, Khan M, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J. Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1. Molecular vision. 2010;16:682.

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Updated on July 8, 2024
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