GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice

GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice

Background. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by mutations in the HEXA gene encoding the alpha subunit of lysosomal hexosaminidase A. It leads to accumulation of GM2-ganglioside in lysosomes and cell death. The major clinical signs of this disease are r...

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Bibliographic Details
Main Authors: Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova
Format: Article
Language:English
Published: Paediatrician Publishers, LLC 2021-01-01
Series:Pediatričeskaâ Farmakologiâ
Subjects:
gm2-gangliosidosis
type i
tay-sachs disease
lysosomal storage disease
macular pallor with prominence of fovea centralis (cherry red spot)
hexosaminidase a deficiency
hexa gene
Online Access:https://www.pedpharma.ru/jour/article/view/1924

Internet

https://www.pedpharma.ru/jour/article/view/1924

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