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Children with Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, and cardiac complications. MPS I S, Scheie syndrome , is the mildest form of MPS I. Symptoms generally begin to appear after age 5, with diagnosis most commonly made after age 10.
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic disease that mainly affects the brain and spinal cord. It is caused by a problem with how the body breaks down certain large sugar molecules called glycosaminoglycans (also known as GAGs or mucopolysaccharides). In children with this condition, these ...
1 in 100,000 to 150,000 male births [ 1] Hunter syndrome, or mucopolysaccharidosis type II ( MPS II ), is a rare genetic disorder in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues. It is a form of lysosomal storage disease. Hunter syndrome is caused by a deficiency of the ...
1:100,000 (Hurler syndrome/severe); 1:115,000 (Hurler-Scheie syndrome/intermediate); 1:500,000 (Scheie syndrome/attenuated) [1] Mucopolysaccharidosis type I is a spectrum of diseases in the mucopolysaccharidosis family. It results in the buildup of glycosaminoglycans (or GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase ...
Frequency. 1 in 100,000. Hurler syndrome, also known as mucopolysaccharidosis Type IH ( MPS-IH ), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inability to break down these molecules results in a wide variety of symptoms ...
Maroteaux–Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). [ 3] ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides). In particular, ARSB breaks down dermatan sulfate and ...
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 ...
Morquio syndrome, also known as mucopolysaccharidosis type IV (MPS IV), is a rare metabolic disorder in which the body cannot process certain types of sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). In Morquio syndrome, the specific GAG which builds up in the body is called keratan sulfate.