alpha-Mannosidosis

An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.

Also Known As:

Alpha-D-Mannosidosis; Alpha-Mannosidase B Deficiency; Alpha-Mannosidosis, Type I; Lysosomal Alpha B Mannosidosis; Lysosomal alpha-D-Mannosidase Deficiency; Mannosidosis, alpha B Lysosomal; alpha Mannosidase B Deficiency; alpha-Mannosidase Deficiency; Deficiencies, Lysosomal alpha-D-Mannosidase; Deficiencies, alpha-Mannosidase; Deficiency, Lysosomal alpha-D-Mannosidase; Deficiency, alpha-Mannosidase; Lysosomal alpha D Mannosidase Deficiency; Lysosomal alpha-D-Mannosidase Deficiencies; alpha Mannosidase Deficiency; alpha Mannosidosis; alpha-D-Mannosidase Deficiencies, Lysosomal; alpha-D-Mannosidase Deficiency, Lysosomal; alpha-Mannosidase Deficiencies; alpha-Mannosidoses; Mannosidosis, alpha B, Lysosomal

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Mannosidase Deficiency Diseases: 163
        alpha-Mannosidosis: 143
    - Inborn Errors Carbohydrate Metabolism
      - Mannosidase Deficiency Diseases: 163
        alpha-Mannosidosis: 143
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Mannosidase Deficiency Diseases: 163
        alpha-Mannosidosis: 143
    - Inborn Errors Carbohydrate Metabolism
      - Mannosidase Deficiency Diseases: 163
        alpha-Mannosidosis: 143

Philippe Dolhem Selected Research

Philippe Dolhem Research Topics

Disease

Drug/Important Bio-Agent (IBA)