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Sanfilippo-good syndrome (heparitinuria; mucopolysaccharidosis iii; mps iii) 1


Sanfilippo-Good Syndrome (Heparitinuria; Mucopolysaccharidosis III; MPS III) 1

General: Autosomal recessive; excess urinary excretion of heparitin sulfate (see Hunter Syndrome; Hurle 313j94d r Syndrome; Maroteaux-Lamy Syndrome; Morquio Syndrome; Scheie Syndrome). Lack of a β-galactosaminidase-like enzyme causing accumulation of glycolipids, acid mucopolysaccharides, and their precursors; both sexes affected; death occurs by second decade in the majority of cases; autosomal recessive; divided into type A (with decreased levels of heparan sulfatase) and type B (with decreased levels of N-acetyl-α-D-glucosaminidase).

Ocular: Night blindness; slight narrowing of retinal vessels; pigment deposits in the fundi; bushy eyebrows; coarse eyelashes; acid mucopolysaccharide deposits in cornea, iris, lens, and sclera; retinal degeneration; optic nerve atrophy.

Clinical: Mental deficiency progressing to severe degrees within a few years; seizures; gargoyle features very mild; dwarfism; stiff joints; hepatosplenomegaly; hirsutism; mitral valve insufficiency.

Collins JF. Handbook of Clinical Ophthalmology New York: Masson, 1982.

Francois J. Ocular manifestations of the mucopolysaccharidoses. Ophthalmologica 1974; 169:345-361.

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

Gills JP, et al. Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses. Arch Ophthalmol 1965; 74:596.

Muenzer J, et al. Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome). Pediatr Cardiol 1993; 14:130-l32.

Smith LH. Inherited metabolic disease with pediatric ocular manifestations. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. V. Philadelphia: WB Saunders, 1994:3102-3120.




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