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

• Main Authors: Natalia V. Zhurkova (Author), Nato D. Vashakmadze (Author), Natella V. Sukhanova (Author), Olga B. Gordeeva (Author), Natalia S. Sergienko (Author), Ekaterina Yu. Zaharova (Author)
• Format: Book
• Published: Union of pediatricians of Russia, 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...