Mucopolysaccharidosis type VII

Mucopolysaccharidosis type VII, also known as Sly syndrome, is an extremely rare, progressive autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme beta-glucuronidase This enzymatic defect prevents the degradation of glycosaminoglycans, leading to pathological substrate accumulation across multiple organ systems, including the skeleton, central nervous system, heart, liver, and spleen Clinical manifestations range in severity from fatal non-immune hydrops fetalis in ...

Mucopolysaccharidosis type VII, also known as Sly syndrome, is an extremely rare, progressive autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme beta-glucuronidase This enzymatic defect prevents the degradation of glycosaminoglycans, leading to pathological substrate accumulation across multiple organ systems, including the skeleton, central nervous system, heart, liver, and spleen Clinical manifestations range in severity from fatal non-immune hydrops fetalis in ...

Mucopolysaccharidosis type VII, also known as Sly syndrome, is an extremely rare, progressive autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme beta-glucuronidase

Clinical manifestations range in severity from fatal non-immune hydrops fetalis in utero to attenuated childhood- or adult-onset forms characterized by skeletal dysplasia (dysostosis multiplex), short stature, hepatosplenomegaly, coarse facial features, corneal clouding, cardiac valve abnormalities, and variable intellectual impairment