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

Pathology: 1) aortic valvular lesions (aortic incompetence) 2) severe skeletal deformities (vertebrate & epiphyses) Clinical manifestations: 1) severe skeletal deformities a) dwarfism b) thoracolumbar gibbus c) kyphoscoliosis 2) cloudy cornea 3) normal intelligence 4) wide range of severity Prognosis: life expectancy: 3rd to 6th decade

Related

keratan sulfate

Specific

Morquio disease type-A; mucopolysaccharidosis 4a; MPS4a Morquio disease type-B; mucopolysaccharidosis 4b; Morquio syndrome B; MPS4b

General

mucopolysaccharidosis (MPS)

Properties

ACCUMULATION: keratan sulfate

References

  1. Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 383
  2. Cotran et al Robbins Pathologic Basis of Disease, W.B. Saunders Co, Philadelphia, PA 1989 pg 150
  3. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038