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GTR Home > Conditions/Phenotypes > Galactosemia 4

Galactosemia 4

Synonyms
GALACTOSE MUTAROTASE DEFICIENCY; GALACTOSEMIA IV

Summary

Galactosemia IV (GALAC4) is an inborn error of galactose metabolism that presents in the neonatal period. Of the 8 affected children that have thus far been reported, none had gastrointestinal symptoms or severe liver dysfunction. Two had bilateral cataracts. All had normal growth and development (summary by Wada et al., 2019). For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400). [from OMIM]

Available tests

3 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BLOCK25, GALAC4, GLAT, HEL-S-63p, IBD1, GALM
    Summary: galactose mutarotase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • 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 Algorithm, 2022
    American College of Medical Genetics Algorithm, Primary or Secondary Hypergalactosemia (Galactose Elevated)
  • ACMG ACT, 2022
    American College of Medical Genetics ACT Sheet, Newborn Screening ACT Sheet Primary or Secondary Hypergalactosemia

Molecular resources

Consumer resources

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