Expansion of the clinical phenotype of GALE deficiency

Am J Med Genet A. 2021 Oct;185(10):3118-3121. doi: 10.1002/ajmg.a.62384. Epub 2021 Jun 22.


Congenital disorders of glycosylation are a group of rare monogenic inborn errors of metabolism caused by defective glycoprotein and glycolipid glycan synthesis and attachment. Here, we present a patient with galactose epimerase deficiency, also known as GALE deficiency, accompanied by pancytopenia and immune dysregulation. She was first identified by an abnormal newborn screen for galactosemia with subsequent genetic evaluation due to pancytopenia and immune dysregulation. The evaluation ultimately revealed that her known diagnosis of GALE deficiency was the cause of her hematologic and immune abnormalities. These findings further expand the clinical spectrum of disease of congenital disorders of glycosylation.

Keywords: B-cell deficiency; congenital disorders of glycosylation; dysmegakaryopoiesis; glycosylation; immune dysfunction; thrombocytopenia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / genetics*
  • Congenital Disorders of Glycosylation / pathology
  • Female
  • Galactosemias / diagnosis
  • Galactosemias / genetics*
  • Galactosemias / pathology
  • Glycolipids / biosynthesis
  • Glycolipids / genetics
  • Humans
  • Mutation / genetics
  • Phenotype
  • Polysaccharides / biosynthesis
  • Polysaccharides / genetics
  • UDPglucose 4-Epimerase / deficiency
  • UDPglucose 4-Epimerase / genetics*


  • Glycolipids
  • Polysaccharides
  • UDPglucose 4-Epimerase
  • galactose epimerase