Sly syndrome


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Sly syn·drome

an autosomal recessive disorder due to a deficiency of a β-glucuronidase; defective lysosomal degradation of dermatan sulfate, heparan sulfate, and chondroitin sulfate; cellular function disrupted in most tissues.

Sly syn·drome

an autosomal recessive disorder due to a deficiency of a β-glucuronidase; defective lysosomal degradation of dermatan sulfate, heparan sulfate, and chondroitin sulfate; cellular function disrupted in most tissues.

Sly syndrome

(slī)
n.
A type of mucopolysaccharidosis (MPS VII) characterized by the presence of dermatan sulfate, heparan sulfate, and chondroitin sulfate in the urine, corneal clouding, enlargement of the liver and spleen, skeletal abnormalities, and sometimes intellectual disability.

Sly syndrome

[slī]
Etymology: William S. Sly, American physician, b. 1932
a mucopolysaccharidosis caused by deficiency of an enzyme important for the degradation of various mucopolysaccharides. It is characterized by excretion of mucopolysaccharides in the urine and by granular inclusions in granulocytes. Onset is between 1 and 2 years of age, with mild to moderate Hurler-like features, including dysostosis multiplex, pigeon breast, organomegaly, cardiac murmurs, short stature, and moderate mental retardation. Milder forms exist. Also called MPS VII.

Sly,

William S., U.S. pediatrician, 1932–.
Sly syndrome - beta-glucuronidase deficiency that causes short stature with hepatosplenomegaly and frequent pulmonary infections; may also cause slow development, coarse facies, and clouded corneas. Synonym(s): type VII mucopolysaccharidosis

sly syndrome

human mucopolysaccharidosis, analogous to β-glucuronidase deficiency mucopolysaccharidosis in experimental dogs.
References in periodicals archive ?
company is formulating various possible treatments for rare or extremely rare diseases, comprising Sly Syndrome, a cellular and organ dysfunction that typically leads to death by early adulthood.
After 3 weeks, the transplanted cells had penetrated diverse regions of the brain and produced beta-glucuronidase, the enzyme that victims of Sly syndrome cannot make.
Mucopolysaccharidosis type 7 (MPS 7), also known as Sly syndrome, is a rare genetic, metabolic disorder.
Also known as Sly syndrome, the disorder was first identified in 1973 by William S.
Proof-of-principle studies in animals have produced preclinical successes for prenatal gene therapy in cystic fibrosis, Duchenne's muscular dystrophy, Pompe disease and the lysosomal storage disease Sly syndrome.
Avigen scientists have demonstrated the use of an AAV vector to correct the symptoms of Mucopolysacharidosis type VII or Sly syndrome in a murine model of that lysosomal storage disease.