MPS IV - Morquio syndrome B

Stable Identifier
R-HSA-2206308
Type
Pathway
Species
Homo sapiens
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Defects in beta-galactosidase (GLB1; MIM:611458) can result in GM1 gangliosidosis (GM1; MIM:230500) (Nishimoto et al. 1991) (not described here), with several phenotypes indicating mental deterioration, as well as in mucopolysaccharidosis IVB, a characteristic mucopolysaccharidosis with no neurological symptoms (Callahan 1999).

Mucopolysaccharidosis IVB (MPS IVB, Morquio's syndrome B; MIM:253010) is a rare, autosomal recessive mucopolysaccharide storage disease characterized by intracellular accumulation of keratan sulfate (KS), skeletal dysplasia and corneal clouding. There is no central nervous system involvement, intelligence is normal and there is increased KS excretion in urine (Suzuki et al. "Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease", p3775-3809 in Stryer et al. 2001). MPSIVB is caused by a defect in betagalactosidase (GLB1), which normally cleaves terminal galactosyl residues from glycosaminoglycans, gangliosides and glycoproteins. The GLB1 gene spans 62.5 kb and contains 16 exons (Oshima et al.1988, Santamaria et al. 2007) and maps to chromosome 3p21.33 (Takano & Yamanouchi 1993).

Literature References
PubMed ID Title Journal Year
17309651 Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America

Santamaria, R, Blanco, M, Chabas, A, Grinberg, D, Vilageliu, L

Clin. Genet. 2007
10571006 Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein

Callahan, JW

Biochim. Biophys. Acta 1999
3143362 Cloning, sequencing, and expression of cDNA for human beta-galactosidase

Oshima, A, Tsuji, A, Nagao, Y, Sakuraba, H, Suzuki, Y

Biochem. Biophys. Res. Commun. 1988
1909089 GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients

Nishimoto, J, Nanba, E, Inui, K, Okada, S, Suzuki, K

Am. J. Hum. Genet. 1991
7693577 Assignment of human beta-galactosidase-A gene to 3p21.33 by fluorescence in situ hybridization

Takano, T, Yamanouchi, Y

Hum. Genet. 1993
  The Metabolic and Molecular Bases of Inherited Disease, 8th ed

Scriver, CR, Beaudet, AL, Valle, D, Sly, WS

  2001
Participants
Participant Of
Disease
Name Identifier Synonyms
mucopolysaccharidosis 12798 Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
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