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GTR Home > Conditions/Phenotypes > Deficiency of galactokinase

Summary

Galactosemia II (GALAC2), or galactokinase deficiency, is an autosomal recessive disorder that causes cataract formation in children not maintained on a lactose-free diet. Cataract formation is the result of osmotic phenomena caused by the accumulation of galactitol in the lens (Asada et al., 1999). For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400). [from OMIM]

Available tests

65 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: GALK, GK1, HEL-S-19, GALK1
    Summary: galactokinase 1

Clinical features

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Practice guidelines

  • ACMG Algorithm, 2022
    American College of Medical Genetics Algorithm, Primary or Secondary Hypergalactosemia (Galactose Elevated)
  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated total galactose with normal GALT enzyme activity, Primary or Secondary Hypergalactosemia, 2022
  • ACMG ACT, 2022
    American College of Medical Genetics ACT Sheet, Newborn Screening ACT Sheet Primary or Secondary Hypergalactosemia
  • ACMG ACT Sheet, 2010
    American College of Medical Genetics ACT SHEETs, Primary or Secondary Hypergalactosemia, 2010
  • ACMG Algorithm, 2009
    American College of Medical Genetics Algorithm, Primary or Secondary Hypergalactosemia, 2009

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