Abstract
Hunter syndrome revisited
Highlights
Hunter syndrome is the type II of mucopolysaccharidose
Heparan and dermatan sulfate accumulate in lysosomes
Multiple organ dysfunction is a consequence of this effect
Summary
Hunter syndrome is the type II of mucopolysaccharidose. Heparan and dermatan sulfate accumulate in lysosomes. Incidence of disease is cited at 1.3 in 100,000 live births [1]. Disease manifest clinically with neurological disorders, skeletal deformities, cardiomyopathy and airway obstruction. Developmental delay and intellectual disability can be found in two-thirds of patients [2]. Management includes enzyme replacement (ERT) and symptomatic support of different systemic manifestations. Auto-antibodies can be developed by the patients in response to ERT. Newborn screening is already in practice in US, together with other lysosomal diseases.
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