Article
[Late infantile and juvenile form of GM2-gangliosidosis variant B1].
Revista de neurologia - 1 Jan 2000
Eirís J, Chabás A, Coll M J, Castro-Gago M
Abstract excerpt
INTRODUCTION: Variant B1 is a rare form of GM2-gangliosidosis characterized by the presence of a mutation in the hexosaminidase A gene (HEXA) leading to a defect in the catalytic region of the alpha-subunit of beta-hexosaminidase A (alpha beta heterodymer). The mutated Hex A has almost normal activity against the natural synthetic substrates (4-methylumbelliferyl-N-acetyl-beta-D-glucosamine, 4MU-NAG) but is...
Topics
- Age Factors
- Alleles
- Child, Preschool
- Female
- Gene Expression
- Heterozygote
- Humans
- Phenotype
- Point Mutation
- Sandhoff Disease