Abstract
1/2020
vol. 71
Short communication
Liver involvement in NGLY1 congenital disorder of deglycosylation
- Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland
- Department of Pathology, The Children’s Memorial Health Institute, Warsaw, Poland
- Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland
Pol J Pathol 2020; 71 (1): 66-68
Online publish date: 2020/02/25
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
N-glycanase 1 deficiency, congenital disorder of deglycosylation, liver steatosis, liver fibrosis
Integrated with
