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Mucopolysaccharides

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Mucopolysaccharides

  1. 1. Mucopolysaccharides DR SAHAMIM AKRAM
  2. 2. 3 Definition MUCOPOLYSACCHRIDE  A gel-like substance found in:  body cells  mucous secretions  synovial fluids
  3. 3. 4 Mucopolysaccharidoses Genetic disorders Deficiency of enzymes necessary to breakdown mucopolysaccharides (MPS) Excessive accumulation of mucopolysaccharides in body tissues
  4. 4. 5 Mucopolysaccharidoses Results: – many serious physical disorders – Various genetic deformities such as: skeletal deformities (especially of the face) mental retardation decreased life expectancy
  5. 5. 6 Examples Hurler syndrome Hunter syndrome Scheie syndrome Sanfilippo syndrome Morquio disease Maroteaux-Lamy syndrome
  6. 6. 7
  7. 7. 8 Hurler syndrome Definition An inherited disease (AR) Storage of abnormal quantities of this material (mucopolysaccharide) in different body tissues is responsible for the symptoms and appearance of the disease
  8. 8. 9 Hurler syndrome
  9. 9. 10 Hurler syndrome
  10. 10. 11 Key Symptom Images Claw handCoarse facial features Corneal clouding Hernia Mucopolysaccharidosis Disease (Hurler, Hurler-Scheie, Scheie Syndromes)
  11. 11. 12 Symptoms Short stature Severe mental retardation Thick, coarse facial features with low nasal bridge Full lips with a thick, large tongue Increased body hair (hirsutism)
  12. 12. 13 Symptoms Umbilical hernia Deafness Stiffness (in joints) Shortness of breath Abnormal bones of spine and claw hand
  13. 13. 14 MPS: Signs Hepatomegaly Splenomegaly Enlarged tongue Retinal pigmentation Hip dislocation Kyphosis Heart murmurs Heart valve damage from thickening
  14. 14. 15 Tests that may indicate the syndrome Increased excretion of dermatan sulfate and heparan sulfate in the urine Absence of lysosomal alpha-L- iduronidase (in cultured fibroblasts) Culture of cells from amniotic fluid obtained by amniocentesis for enzyme testing (prenatal testing)
  15. 15. 16 Tests that may indicate the syndrome Abnormal histological staining of white blood cells called metachromasia X-ray of the skeleten X-ray of the spine X-ray of the chest ECG
  16. 16. 17 Hunter syndrome type (Sulpho-idoronide sulphatase deficiency )
  17. 17. 18 Hunter syndrome type
  18. 18. 19 Hunter syndrome
  19. 19. 20 Sanfilippo syndrome
  20. 20. 21 Sanfilippo syndrome
  21. 21. 22 Sanfilippo syndrome
  22. 22. 23 Morquio syndrome
  23. 23. 24 Morquio syndrome Skeletal abnormality - hand
  24. 24. 25 Skeletal abnormality: flattened vertebrae
  25. 25. 26
  26. 26. 27 Maroteaux-Lamy syndrome (N-Acetyl-galactose-amin-4- sulfatase (Arylsulfatase B)
  27. 27. 28 Maroteaux-Lamy syndrome
  28. 28. 29 Maroteaux-Lamy syndrome
  29. 29. 30 Features and Characteristics Maroteaux-Lamy syndrome Coarse facial features
  30. 30. 31 Treatment At the present time, there is no cure for MPS disorders. Enzyme replacement therapy and gene therapy are the two treatments that researchers have been focusing on to eventually cure MPS diseases. There are a number of research institutions around the world working on finding a cure for the MPS diseases including facilities in the United States, Canada, England, and Australia.

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