SHORT COMMUNICATION
Liver involvement in NGLY1 congenital disorder of deglycosylation
1
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland
2
Department of Pathology, The Children’s Memorial Health Institute, Warsaw, Poland
3
Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland
Submission date: 2019-12-14
Acceptance date: 2019-12-30
Publication date: 2020-02-25
Pol J Pathol 2020;71(1):66-68
KEYWORDS
TOPICS
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 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.
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| eISSN: | 2084-9869 |
| ISSN: | 1233-9687 |
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