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Definition

A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.

Acronym

MPS1H

Synonyms

Alpha-L-iduronidase deficiency
Hurler's syndrome
Hurler syndrome
MPS IH
MPS-IH
Mucopolysaccharidosis type IH

Keywords

Mucopolysaccharidosis

 
Disclaimer

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