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Morquio disease type-B; mucopolysaccharidosis 4b; Morquio syndrome B; MPS4b

Epidemiology: rare Genetics: - autosomal recessive - associated with defects in GLB1 Clinical manifestations: - severe bone deformities without CNS involvement

Related

beta-galactosidase (lactase, acid beta-galactosidase, elastin receptor 1, GLB1, ELNR1) keratan sulfate

General

Morquio disease; mucopolysaccharidosis-4; eccentro-osteochondrodysplasia; MPS4

Properties

ACCUMULATION: keratan sulfate DEFICIENCY: beta-galactosidase

Database Correlations

OMIM correlations

References

  1. Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 383
  2. OMIM :accession 253010