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mucopolysaccharidosis type 1

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mucopolysaccharidosis type 1

Mucopolysaccharidosis type 1 (Hurler, Scheie and Hurler/Scheie Disease are forms of Mucopolysaccharidosis Type 1) is a multi-organ storage disease that affects many parts of the body. MPS I covers a wide spectrum of severity of symptoms.

The gene has been located and is inherited in an autosomal recessive pattern. All those with MPS I lack the same enzyme called alpha-L-iduronidase which is essential in cutting up mucopolysaccharides. The incompletely broken down mucopolysaccharides remain stored in cells in the body causing progressive damage. Babies may show little sign of the disease, but as more and more cells become damaged, symptoms start to appear.

Definition from MPS Society:mucopolysaccharidosis type 1

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