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Thickened skin and mild changes in facial features, bone, and skeletal structures become noticeable with age. Growth in height usually stops by age 10. Other problems may include narrowing of the airway passage in the throat and enlargement of the tonsils and adenoids, making it difficult to eat or swallow. Recurring respiratory infections are ...
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).
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 , an enzyme responsible for the degradation of GAGs in lysosomes .
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare lifelong 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).
Hyaluronidase deficiency, also known as Mucopolysaccharidosis type IX or MPS IX, is a condition caused by mutations in the HYAL1 gene, and is characterized by multiple soft-tissue masses. [ 1 ] : 544
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).