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MIRAGE
galactosemia 4

Summary
Synonym
  • GALM deficiency
  • Galactose mutarotase deficiency
  • Galactosemia type 4
Definition
A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22.
Super Class
galactosemia
Disease Ontology
DOID:0060969
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
130589 GALM galactose mutarotase
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025