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General Reference ⬇

AKA mucopolysaccharide glycosamineglycan (GAG)] disorder I

Pathophys and Cause ⬆ ⬇

Cause:Autosomal recessive

Pathophys:Probably a variant of Hunter’s; increased intracellular chondroitin sulfate (mucopolysaccharide); decreased -galactosidase in skin, brain, liver, spleen, etc, which is normally necessary to cleave terminal gal from the mucopolysaccharides (Nejm 1969;281:338)

Signs and Symptoms ⬆ ⬇

Sx:Normal at birth, as in Hunter’s; more rapid onset; cloudy cornea; retarded; progressive coarsening of features; hepatosplenomegaly, gingival hyperplasia

Treatment ⬆

Rx:

Stem cell transplant w unrelated donor cord blood (Nejm 2004;350:1960)

Recombinant enzyme replacement w image-L-ironidase (laronidase [Alderazyme]) (Med Let 2003;45:88) weekly iv; $3400/wk