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ISSN: 1233-9687
Polish Journal of Pathology
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1/2020
vol. 71
 
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abstract:
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Liver involvement in NGLY1 congenital disorder of deglycosylation

Patryk Lipiński
1
,
Joanna Cielecka-Kuszyk
2
,
Piotr Socha
3
,
Anna Tylki-Szymańska
1

  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
Pol J Pathol 2020; 71 (1): 66-68
DOI: https://doi.org/10.5114/pjp.2020.92994
Online publish date: 2020/02/25
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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
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