Metabolism

Lysosomal Storage Disease

search

Lysosomal Storage Disease, Mucopolysaccharidoses, Mucolipidosis, Glycoprotein Metabolism Disorder, Gangliosidosis, Gangliosidoses, Sphingolipidosis

  • Pathophysiology
  1. Lysosomal Storage Diseases lack enzymes that interfere with lysosomal phagocytosis of large cellular molecules
  • Types
  • Mucopolysaccharidosis
  1. Hurler's Syndrome
  2. Scheie's Syndrome
  3. Hunter's Syndrome
  4. Sanfilippo's Syndrome (Types A-D)
  5. Morquio A-B
  6. Maroteaux-Lamy Syndrome
  7. Beta-glucuronidase deficiency
  • Types
  • Mucolipidosis
  1. Type 2: CNS, Bone and connective tissue involvement
  2. Type 3: Joint and connective tissue involvement
  • Types
  • Glycoprotein disorders
  1. Fucosidosis
  2. Mannosidosis
  3. Sialidosis
  4. Glycogen Storage Disease
  5. Aspartylglycosaminuria
  • Types
  • Gangliosidosis (Sphingolipidosis)
  1. Gaucher's Disease
  2. Niemann-Pick Disease
  3. Krabbe's Disease (Globoid leukodystrophy)
  4. Metachromatic leukodystrophy
  5. Ceramide lactoside lipidosis
  6. Fabry's Disease
  7. Tay-Sachs Disease
  8. Sandhoff's Disease
  9. Landing's Disease