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Sphingolipidoses (Sphingolipidosis) Summary

Description: A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.

Also Known As: Sphingolipidosis; Sphingolipid Storage Diseases; Sphingolipid Storage Disease; Storage Disease, Sphingolipid; Storage Diseases, Sphingolipid

Networked: 134 relevant articles (1 outcomes, 10 trials/studies) for this Disease

Key Drugs and Agents for Sphingolipidoses

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Drugs and Important Biological Agents (IBA) related to treatments:
  1. Cholesterol : 1 outcome in 9 results : IBA
  2. Sphingolipids : 3 studies in 27 results : IBA
  3. Lipids : 2 studies in 5 results : IBA
  4. Enzymes : 1 study in 14 results : IBA
  5. Hydrolases : 1 study in 10 results : IBA
  6. Glycosphingolipids : 1 study in 7 results : IBA
  7. Proteins (Proteins, Gene) : 1 study in 6 results : IBA
  8. Ceroid : 1 study in 5 results : IBA
  9. methylamine (methylammonium) : 1 study in 2 results : IBA
  10. rab GTP-Binding Proteins : 1 study in 1 result : IBA
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Diseases Related to Sphingolipidoses

  1. Glycogen Storage Disease Type II (Pompe's Disease)
  2. Mucopolysaccharidoses
  3. Mucolipidoses (Sialidosis)
  4. Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
  5. Pathologic Processes
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Key Therapies for Sphingolipidoses

Efficacy Chart >>
  1. Enzyme Replacement Therapy : 2 results
  2. Cell Transplantation : 2 results
  3. Lasers (Laser) : 2 results
  4. Kidney Transplantation : 1 result
  5. Transplantation (Transplant Recipients) : 1 result
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