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Related to mucopolysaccharidosis IV: Mucopolysaccharidosis VI
mucopolysaccharidosis IVBeta-galactosidase deficiency, Morquio syndrome Metabolic disease An AR mucopolysaccharidosis characterized by 6-sulfo-N-acetylhexosaminide sulfatase deficiency and excretion of keratan sulfate in urine Clinical coarse facies, short stature, skeletal and joint defects; onset after 1st yr, life expectancy 20+ yrs; may be mentally normal. See Mucopolysaccharidosis; Beta-galactosidase.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
Mucopolysaccharidosis due to a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase. Clinically, there are dwarfism, thoracolumbar gibbus (hunchback), kyphoscoliosis, coarse facies, cardiac lesions, moderate hepatosplenomegaly, and joint hypermobility. Synonym: chondro-osteodystrophy; Morquio's syndrome
See also: mucopolysaccharidosis
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