Liver involvement in NGLY1 congenital disorder of deglycosylation.
Pol J Pathol
; 71(1): 66-68, 2020.
Article
en En
| MEDLINE
| ID: mdl-32429657
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Trastornos Congénitos de Glicosilación
/
Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa
/
Hígado
Límite:
Child, preschool
/
Humans
País/Región como asunto:
Europa
Idioma:
En
Revista:
Pol J Pathol
Asunto de la revista:
PATOLOGIA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Polonia