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Mucopolysaccharidosis in Adults
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There are 8 different types of diseases of the mucopolysaccharides, each caused by a deficiency in one of 10 different enzymes involved in the degradation of glycosaminoglycans (GAGs). Partially degraded GAGs accumulate within the lysosomes of many different cell types and lead to clinical symptoms and excretion of large amounts of GAGs in the urine. Heritability is autosomal recessive except for MPS type II, which is X-linked. The disorders are chronic and progressive and, although the specific types all have their individual features, they share an abundance of clinical similarities. All involve the musculoskeletal, the cardiovascular, the pulmonary and the central nervous system.
Title: Mucopolysaccharidosis in Adults
Description:
There are 8 different types of diseases of the mucopolysaccharides, each caused by a deficiency in one of 10 different enzymes involved in the degradation of glycosaminoglycans (GAGs).
Partially degraded GAGs accumulate within the lysosomes of many different cell types and lead to clinical symptoms and excretion of large amounts of GAGs in the urine.
Heritability is autosomal recessive except for MPS type II, which is X-linked.
The disorders are chronic and progressive and, although the specific types all have their individual features, they share an abundance of clinical similarities.
All involve the musculoskeletal, the cardiovascular, the pulmonary and the central nervous system.
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