Sly syndrome
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Sly syndrome, also called mucopolysaccharidosis type VII (MPS-VII), is an autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme β-glucuronidase. This enzyme is responsible for breaking down large sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). The inability to break down GAGs leads to a buildup in many tissues and organs of the body. The severity of the disease can vary widely.[1]
Quick Facts Other names, Specialty ...
Sly syndrome | |
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Other names | β-glucuronidase deficiency, β-glucuronidase deficiency mucopolysaccharidosis, |
Sly syndrome has an autosomal recessive pattern of inheritance. | |
Specialty | Endocrinology |
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