| 释义 |
EncyclopediaSeeMorquio's syndromeMorquio syndrome
Mor·qui·o syn·drome (mōr'kyō), [MIM*253000, MIM*253010] an error of mucopolysaccharide metabolism with excretion of keratan sulfate in urine; characterized by severe skeletal defects with short stature, severe deformity of spine and thorax, long bones with irregular epiphyses but with shafts of normal length, enlarged joints, flaccid ligaments, and waddling gait; autosomal recessive inheritance; type IVA mucopolysaccharidosis is due to an absence of galactose-1-sulfatase and is caused by mutation in the N-acetylgalactosamine-6-sulfate sulfatase gene (GALNS) on 16q, whereas type IVB is due to a deficiency of a β-galactosidase, and is caused by mutation in β-galactosidase gene (GLB1) on 3p. Synonym(s): Brailsford-Morquio disease, Morquio disease, Morquio-Ullrich disease, mucopolysaccharidosis type IVA, IVBMorquio syndrome (môr′kē-ō′)n. A type of mucopolysaccharidosis (MPS IV) characterized by the presence of keratan sulfate in the urine, short stature due to skeletal abormalities, stiff joints, flaccid ligaments, hearing loss, enlargement of the liver, and corneal clouding.Morquio syndrome Mucopolysaccharidosis IV Metabolic disease An AR mucopolysaccharide storage disease characterized by 6-sulfo-N-acetylhexosaminide sulfatase deficiency and excretion of keratosulfate in urine Clinical Coarse facies, short stature, and skeletal, joint defects; onset after first yr, life expectancy 20+ yrs; may be mentally normal. See Mucopolysaccharidosis. Morquio, Louis, Uruguayan physician, 1867-1935. Brailsford-Morquio disease - Synonym(s): Morquio syndromeMorquio disease - Synonym(s): Morquio syndromeMorquio signMorquio syndrome - an error of mucopolysaccharide metabolism characterized by severe skeletal defects. Synonym(s): Brailsford-Morquio disease; Morquio disease; Morquio-Ullrich disease; type IV A, B mucopolysaccharidosisMorquio-Ullrich disease - Synonym(s): Morquio syndrome |