Valeria A Zagaynova, Yulia A Nasykhova, Ziravard N Tonyan, Maria M Danilova, Natalya M Dvoynova, Tatyana E Lazareva, Tatyana E Ivashchenko, Elena S Shabanova, Inna O Krikheli, Elena A Lesik, Olesya N Bespalova, Igor Yu Kogan, Andrey S Glotov
Ganglioside-monosialic acid (GM1) gangliosidosis (ICD-10: E75.1; OMIM: 230500, 230600, 230650) is a rare autosomal recessive hereditary disease, lysosomal storage disorder caused by mutations in the GLB1 gene that lead to the absence or insufficiency of β-galactosidase. In this study, we report a case of a Russian family with a history of GM1 gangliosidosis. The family had a child who, from the age of 6 months, experienced a gradual loss of developmental skills, marked by muscle flaccidity, psychomotor retardation, hepatosplenomegaly, and the onset of tonic seizures by the age of 8 months...
2024: Frontiers in Genetics