Liver involvement in ngly1 congenital disorder of deglycosylation

Abstract

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 char-acteristic symptoms include global developmental disability, hyperkinetic move-ment 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 dia-stases-digested material in the cytoplasm.