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Abstract #28235 Published in IGR 13-1
Three adult siblings with mucopolysaccharidosis type II (hunter syndrome): A report on clinical heterogeneity and 12 months of therapy with idursulfase
Tchan MC; Devine KT; Sillence DOTwin Research and Human Genetics: the Official Journal of the International Society for Twin Studies 2010; 13: 666
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is a rare X-linked recessive disease of lysosomal glycosaminoglycan metabolism leading to a systemic storage disorder. We report on three adult brothers (aged 46 to 52 years) with attenuated Hunter syndrome after 12 months of enzyme replacement therapy with idursulfase. Prior to enzyme replacement therapy each had serious complications of their disease: in addition to all requiring urgent cervical spinal canal decompressions in middle age, one required emergency aortic and mitral valve surgery, another had stage IV airways disease and the third had acute glaucoma resulting in unilateral blindness. One brother discontinued therapy after 12 months. The other two brothers reported subjective improvements in energy and exercise tolerance.
M.C. Tchan. Department of Genetic Medicine, Westmead Hospital, Sydney, Australia.
Classification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)