Normal serum beta-galactosidase in juvenile GM1 gangliosidosis.

doi:10.1016/0887-8994(94)90129-5

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Article

Normal serum beta-galactosidase in juvenile GM1 gangliosidosis.

Pediatric neurology - 1 Jun 1994

Ishii N, Oshima A, Sakuraba H, Fukuyama Y, Suzuki Y

Abstract excerpt

GM1 gangliosidosis is a genetic disease with lysosomal beta-galactosidase deficiency caused by mutations of the gene coding for this enzyme. However, apparently normal enzyme activity was found in plasma or serum from juvenile GM1 gangliosidosis patients homozygous for a mutation, R201C (201Arg--...

Topics

Adolescent
Adult
Base Sequence
Blood Coagulation
Child
Child, Preschool
Female
Gangliosidosis, GM1
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
beta-Galactosidase

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