[beta-galactosidosis--GM1 gangliosidosis and Morquio B disease].

Abstract

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.

• Authors: K Yoshida, N Yanagisawa
• Journal: Nihon rinsho. Japanese journal of clinical medicine (Nihon Rinsho) Vol. 53 Issue 12 Pg. 2960-6 (Dec 1995) ISSN: 0047-1852 [Print] Japan
• PMID: 8577043 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• beta-Galactosidase

Topics

• Age of Onset
• Animals
• Gangliosidosis, GM1 (etiology)
• Humans
• Mucopolysaccharidosis IV (etiology)
• Mutation
• beta-Galactosidase (deficiency, genetics)