Sanfilippo IIIA syndrome: unraveling clinical phenotypes in two sisters
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Abstract
Type III mucopolysaccharidosis (Sanfilippo syndrome) comprises a group of autosomal recessive hereditary disorders, belonging to the group of lysosomal storage diseases (LSD) of mucopolysaccharides (glycosaminoglycans, GAGs). The disease is caused by the deficiency of one of the four enzymes responsible for the degradation of heparan
sulfate, a specific type of GAG. We report two sisters with Sanfilippo IIIA syndrome confirmed by enzymatic and genetic tests. Specific therapy has not yet been developed, however a correct diagnosis allows not only the benefits from symptomatic treatment and rehabilitation therapies for the patients as well genetic counselling for the families.
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