Mucopolysaccharidosis type I
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"MPS I" redirects here. For zhuyin or bopomofo, a Chinese phonetic system, also known as Mandarin phonetic symbols I, see Bopomofo.
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. Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body.
Quick Facts Other names, Specialty ...
Mucopolysaccharidosis type I | |
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Other names | MPS I |
Structure of dermatan sulfate, one of the molecules that accumulates in the lysosomes of MPS I patients | |
Specialty | Endocrinology |
Causes | Deficiency of the alpha-L iduronidase enzyme |
Differential diagnosis | Hunter syndrome; other mucopolysaccharidoses |
Treatment | Enzyme replacement therapy with iduronidase; surgery |
Prognosis | Death usually occurs before 12 years (Hurler syndrome/severe form); lifespan may be normal (Scheie syndrome/attenuated form) |
Frequency | 1:100,000 (Hurler syndrome/severe); 1:115,000 (Hurler-Scheie syndrome/intermediate); 1:500,000 (Scheie syndrome/attenuated)[1] |
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MPS I may present with a wide spectrum of symptoms, depending on how much functional enzyme is produced. In severe forms, symptoms appear during childhood, and early death can occur due to organ damage. In mild cases, the patient may live into adulthood.