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Mucopolysaccharidoses mel biochem

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mucopolyssacharidoses

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Mucopolysaccharidoses mel biochem

  1. 1. Nur Amalina bt Aminuddin Baki 082012100067 082012100063 082012100071 082012100075
  2. 2. Objective • To understand what is mucopolysaccharidoses • T0 be able to list the features of mucopolysaccharidoses • To know the types of mucopolysaccharidoses and their causes with their diagnosis
  3. 3. Introduction • GAG = long chains of sugar carbohydrates in cells that help build bone ,cartilage, tendons , corneas, skin and connective tissue • GAG is made up of chains amino sugar + uronic acid
  4. 4. • Deficiency of enzyme to breakdown GAG • so excessive accumulation of GAG(glycosaminoglycan) in lysosomes of various tissues • Will result in lysis of lysosome release of all hydrolytic enzyme  tissue destruction
  5. 5. • All are inborn errors of metabolism • All these diseases are inherited (autosomal recessive traits) except Hunter’s disease (X- linked • Clinically Progressive disorders
  6. 6. Groups of GAG: • Hyaluronic acid • Chondroitin sulphate • Dermatan sulphate • Heparan sulphate • Keratan sulphate • Heparin
  7. 7. Features • Coarse facial features( flat nasal bridge, thick lips, and enlarged mouth and tongue) • Thick skin • Corneal opacity • Mental retardation • Gargoyle appearance • Short stature • Claw like fingers
  8. 8. Diagnosis • Urine test • Enzyme assays • Prenatal diagnosis • Genetic counselling
  9. 9. Treatment • No cure • Medical care is given to improve quality of life – Physiotherapy – exercise – changes in diet
  10. 10. Type 1( Hurler’s) • L- Iduronidase • Mental retardation+++ • Skeletal deformity ++ • Corneal opacity++ • Dermatan Sulphate and Heparan Sulphate in urine • 1:100,000
  11. 11. Type 2 ( Hunter’s) • Iduronate sulphatase • Mental retardation+ • Skeletal deformity ++ • No Corneal opacity • Deafness • Dermatan Sulphate and Heparan Sulphate in urine • 1: 250,000
  12. 12. Type 3 ( Sanfilippo’s) • N – acetyl glucosaminidase and heparan sulfatase • Mental retardation++ • Skeletal deformity + • Corneal opacity+ • Heparan Sulphate in urine • 3 types • 1:500,000
  13. 13. Type 4 ( Morquio’s) • Galactosamine sulfatase and b- D galactosidase • Mental retardation+ • Skeletal deformity + • Corneal opacity+ • Epiphyseal dysplasia + • Keratan Sulphate and Chondroitin Sulphate in urine • 2 types • 1 :75,000
  14. 14. Type 5 ( Scheie’s) • L- Iduronidase • No Mental retardation • Mild Skeletal changes • Corneal opacity++ • Dermatan Sulphate in urine • 1: 100,000
  15. 15. Type 6 (Maroteaux- Lamy’s) • N- acetyl –b-D- Galactosamino-4-Sulfatase • No Mental retardation • Skeletal deformity +++ • Corneal opacity++ • Dermatan Sulphate in urine • 1 :100,000
  16. 16. Type 7 ( Sly’s) • B- Gluronidase • Mental retardation+ • Dermatan Sulphate and Heparan Sulphate in urine • <1: 250,000
  17. 17. Conclusion • The accumulation of GAG and defiency of enzyme can lead to severe clinical condition based on Their site of accumulation The type of GAG that accumulate • HHSMSMS
  18. 18. Reference • DM Vasudevan, Sreekumari S and Kannan Vaidyanathan, Textbook of Biochemistry for Medical Students, 6th Edition.

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