[beta-galactosidosis--GM1 gangliosidosis and Morquio B disease].
beta-galactosidosis is a lysosomal storage disorder caused by a deficiency of acid beta-galactosidase, including to autosomal recessive diseases; GM1-gangliosidosis (neurovisceral form) and Morquio B disease (skeletal form). To date, 26 different mutations in the beta-galactosidase gene have been identified in patients with beta-galactosidosis from various ethnic groups. Transient expression of the mutant genes has confirmed that mutant enzymes responsible for infantile GM1-gangliosidosis have almost no detectable beta-galactosidase activity. But the other three forms (late infantile/juvenile, adult/chronic GM1-gangliosidosis and Morquio B disease) are characterized by specific mutant enzymes with significant residual enzyme activity. Heterogeneous patterns of post-translational processing and maturation in these mutant enzymes are closely related to the phenotypic variations in beta-galactosidosis.
Yoshida
K
K
Department of Medicine (Neurology), Shinshu University School of Medicine
Yanagisawa
N
N
D017668:Age of Onset; D000818:Animals; D016537:Gangliosidosis, GM1 / Q000209:etiology; D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000209:etiology; D009154:Mutation; D001616:beta-Galactosidase / Q000172:deficiency / Q000235:genetics
D001616:beta-Galactosidase