Mannosidosis

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Contents

Used for

mannosidase deficiency

Broader Terms

enzyme deficiency, inborn carbohydrate metabolism disorder, inborn lysosomal enzyme disorder

Related Terms

mannosidase, mental retardation

Scope Note

lysosomal storage disease due to defective alpha-mannosidase with resultant oligosaccharide accumulation.

Facts (generated by robot; please edit if you find it inaccurate)

  • com/Beta-Mannosidosis Beta-mannosidosis is a genetic defect of Nubians which is similar to G-6-S in its mode of transmission and in the method recommended for its management.
  • Back to Contents Where is alpha mannosidosis found and how is a diagnosis made? Mannosidosis is found in all ethnic groups in Europe, America, Africa and also Asia.
  • Alpha-Mannosidosis Important It is possible that the main title of the report Alpha-Mannosidosis is not the name you expected.
  • noAlpha-mannosidosis is characterized by mild to moderate intellectual disability (ID), moderate to severe neurosensory hearing loss, frequent infections, psychomotor disturbances and skeletal dysmorphism.
  • a-Mannosidosis is a lysosomal storage disorder that is caused by the deficiency of lysosomal a-mannosidase.

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