Mucopolysaccharidosis II

Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.

Also Known As:

Hunter Syndrome; Hunter's Syndrome; Hunter Syndrome Gargoylism; I2S Deficiency; Mucopolysaccharidosis 2; Mucopolysaccharidosis Type 2; Mucopolysaccharidosis Type II; Deficiency, I2S; Deficiency, Iduronate 2-Sulfatase; Deficiency, Iduronate Sulfatase; Deficiency, Sulfoiduronate Sulfatase; Hunters Syndrome; Iduronate 2 Sulfatase Deficiency; Syndrome, Hunter; Syndrome, Hunter's; Gargoylism, Hunter Syndrome; Iduronate 2-Sulfatase Deficiency; Iduronate Sulfatase Deficiency; Sulfoiduronate Sulfatase Deficiency

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - X-Linked Mental Retardation: 272
        Mucopolysaccharidosis II: 581
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Mucopolysaccharidoses: 1610
        Mucopolysaccharidosis II: 581
    - Inborn Errors Carbohydrate Metabolism
      - Mucopolysaccharidoses: 1610
        Mucopolysaccharidosis II: 581
  - Nervous System Heredodegenerative Disorders: 63
    - X-Linked Mental Retardation: 272
      - Mucopolysaccharidosis II: 581
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 272
      - Mucopolysaccharidosis II: 581
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3269
  - Mucinoses: 170
    - Mucopolysaccharidoses: 1610
      - Mucopolysaccharidosis II: 581
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Mucopolysaccharidoses: 1610
        Mucopolysaccharidosis II: 581
    - Inborn Errors Carbohydrate Metabolism
      - Mucopolysaccharidoses: 1610
        Mucopolysaccharidosis II: 581

Luiza Abrahão Selected Research

Luiza Abrahão Research Topics

Disease

Drug/Important Bio-Agent (IBA)