eISSN: 2084-9869
ISSN: 1233-9687
Polish Journal of Pathology
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abstract:
Short communication

Liver involvement in NGLY1 congenital disorder of deglycosylation

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

Pol J Pathol 2020; 71 (1): 1-3
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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