Mucopolysaccharidosis I

Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.

Also Known As:

Hurler Syndrome; Scheie Syndrome; Hurler Scheie Syndrome; Hurler's Syndrome; Scheie's Syndrome; Gargoylism; Gargoylism, Hurler Syndrome; Hurler Disease; Hurler's Disease; Mucopolysaccharidosis 1; Mucopolysaccharidosis 5; Mucopolysaccharidosis I-S; Mucopolysaccharidosis Type I; Mucopolysaccharidosis Type Ih; Mucopolysaccharidosis Type Ih S; Mucopolysaccharidosis Type Is; alpha-L-Iduronidase Deficiency; Disease, Hurler's; Gargoylisms; Hurler Syndrome Gargoylism; Lipochondrodystrophies; Mucopolysaccharidosis I S; Mucopolysaccharidosis Is; Mucopolysaccharidosis Type Ihs; Syndrome, Hurler's; Syndrome, Scheie's; Type Ih, Mucopolysaccharidosis; Type Ihs, Mucopolysaccharidosis; alpha L Iduronidase Deficiency; alpha-L-Iduronidase Deficiencies; Hurler-Scheie Syndrome; Lipochondrodystrophy; Mucopolysaccharidosis V; Pfaundler-Hurler Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Mucopolysaccharidoses: 1646
        Mucopolysaccharidosis I: 973
    - Inborn Errors Carbohydrate Metabolism
      - Mucopolysaccharidoses: 1646
        Mucopolysaccharidosis I: 973
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3325
  - Mucinoses: 170
    - Mucopolysaccharidoses: 1646
      - Mucopolysaccharidosis I: 973
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Mucopolysaccharidoses: 1646
        Mucopolysaccharidosis I: 973
    - Inborn Errors Carbohydrate Metabolism
      - Mucopolysaccharidoses: 1646
        Mucopolysaccharidosis I: 973

John R Melniczek Selected Research

John R Melniczek Research Topics

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Therapy/Procedure