Sly syndrome
A disorder of mucopolysaccharide metabolism characterized by short stature, coarsening of the facial features, clouding of the cornea, striking enlargement of the liver and spleen, skeletal abnormalities, and intellectual deterioration resulting in moderately severe mental retardation.
Sly syndrome is due to deficiency of the enzyme beta-glucuronidase which causes the damaging accumulation of mucopolysaccharides in the central nervous system and other tissues. There are several forms of Sly syndrome, including a much milder form compatible with normal intelligence. All forms of Sly syndrome are inherited in an autosomal recessive manner.
Also known as mucopolysaccharidosis Type VII (MPS VII).
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