Liver involvement in NGLY1 congenital disorder of deglycosylation

Pol J Pathol. 2020;71(1):66-68. doi: 10.5114/pjp.2020.92994.


N-glycanase 1 deficiency is a congenital disorder of deglycosylation, which has been diagnosed in 27 patients, including 2 of them from Poland. The most characteristic symptoms include global developmental disability, hyperkinetic movement disorder, hypo-/alacrimia, and elevated serum transaminases. We reported on a patient in whom the liver biopsy done at the age of 3 years revealed the presence of steatosis, fibrosis, and an amorphous periodic acid-Schiff staining positive diastases-digested material in the cytoplasm.

Keywords: congenital disorder of deglycosylation; liver fibrosis; liver steatosis; N-glycanase 1 deficiency.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Congenital Disorders of Glycosylation / genetics*
  • Humans
  • Liver / pathology*
  • Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / deficiency*
  • Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / genetics
  • Poland


  • Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase

Supplementary concepts

  • NGLY1 deficiency