Maroteaux-lamy syndrome (systemic mucopolysaccharidosis type vi; mps vi syndrome; mucopolysaccharidosis vi) 7

General: Onset in infancy; etiology unknown; autosomal recessive; excessive urinary excretion of chondroitin sulfate B; lysosomal storage disease; deficiency of the enzyme arylsulfatase B; multiple clinical phenotypes.

Ocular: Corneal haziness and opacities; pupillary membrane remnants.

Clinical: Skeleton deformities; restriction of articular movements; dyspnea; heart murmur; hearing impairment.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Kenyon KR, et al. Ocular pathology of the Maroteaux-Lamy syndrome. Am J Ophthalmol 1972; 73:718.

Matalon R, et al. Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome. Biochem Biophys Res Commun 1974; 61:1450-l457.

Quigley HA, Kenyon KR. Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis. Am J Ophthalmol 1974; 77:809.

Voskoboeva E, et al. Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Hum Genet 1994; 93:259-264.