Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni. Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija
Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. In patients with mucopolysaccharidosis type II, glycosaminoglycans accumulate within tissues and organs, contributing to the signs and symptoms of the disease. Mucopolysaccharidosis type II affects multiple organs and the physiological system and has a variable age of onset and rate of progression. Children show characteristic facial features, skeletal dysplasia, mental retardation and hepatosplenomegaly. In patients with neurological involvement, intelligence is impaired, and death usually occurs in the second decade of life, whereas those patients with minimal or no neurological involvement may survive into adulthood with normal intellectual development. Analysis of urinary GAG levels can be used to confirm the suspicion of mucopolysaccharidosis.
Key words: Mucopolysaccharidosis, Hunter syndrome, lysosomal enzyme.