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General Reference ⬇

AKA mucopolysaccharide [glycosamineglycan (GAG)] disorder II

Pathophys and Cause ⬆ ⬇

Cause:X-linked recessive

Pathophys:Increased intracellular chondroitin sulfate (mucopolysaccharide)

Signs and Symptoms ⬆ ⬇

Sx:Normal at birth; causes stiff joints, deafness, dwarfism, hepatosplenomegaly, skeletal deformities, progressive mental retardation, death from cardiopulmonary cmplcs, coarse facial features

Complications ⬆ ⬇

Acute airway obstruction from accumulation of glycosaminoglycans in neck (Int J Pediatr Otorhinolaryngol 1998;44:273)

Lab and Xray ⬆ ⬇

Lab:

Elevated urinary, skin, white cell, or serum mucopolysaccharides

Treatment ⬆

Rx:

Recombinant enzyme replacement (Nejm 2001;344:182)