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,

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
References in periodicals archive ?
Matthew Evangelista was 11 years old when he was diagnosed with an extremely rare degenerative disease called mucopolysaccharidosis type VII or sly syndrome. It is a progressive inborn error of metabolism which causes "growth retardation, skeletal abnormalities, changes in bones visible on X-rays (dysostosis multiplex), and some degree of intellectual disability," as defined by (https://rarediseases.org/rare-diseases/sly-syndrome/) RareDiseases.org , official website for the National Organization for Rare Disorders. 
Many patients suffering from sly syndrome die at birth or soon after while a few live into their early adulthood. 
Food and Drug Administration (FDA) has approved MEPSEVII[TM] (vestronidase alfa), the first medicine approved for the treatment of children and adults with Mucopolysaccharidosis VII (MPS VII, Sly syndrome).
INDICATION: MEPSEVII is indicated in pediatric and adult patients for the treatment of Mucopolysaccharidosis VII (MPS VII, Sly syndrome).
The US Food and Drug Administration (FDA) has granted approval to Ultragenyx Pharmaceutical's enzyme replacement therapy, Mepsevii (vestronidase alfa), intended for the treatment of Mucopolysaccharidosis VII (MPS VII, Sly syndrome) in both children and adults, it was reported yesterday.
Steiner et al., "Clinical course of sly syndrome (mucopolysaccharidosis type VII)," Journal of Medical Genetics, vol.
The Novato, Calif., 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.
Another compound, UX003 for MPS 7 (Sly Syndrome), is expected to begin Phase 1/2 clinical trials later this year.
Snyder of the Harvard Medical School in Boston and his colleagues recently implanted neural progenitor cells from the brains of healthy newborn mice into newborn mice that have Sly syndrome, a rare and fatal metabolic disorder (SN: 8/10/91, p.93).
M2 EQUITYBITES-November 16, 2017-Ultragenyx passes US FDA's approval for Mepsevii for the rare genetic enzyme disorder Sly syndrome
M2 PHARMA-November 16, 2017-Ultragenyx passes US FDA's approval for Mepsevii for the rare genetic enzyme disorder Sly syndrome