mucopolyssacharidoses

1. Nur Amalina bt Aminuddin Baki
082012100067
082012100063
082012100071
082012100075

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. 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. • 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

6. • All are inborn errors of metabolism
• All these diseases are inherited (autosomal
recessive traits) except Hunter’s disease (X-
linked
• Clinically Progressive disorders

7. Groups of GAG:
• Hyaluronic acid
• Chondroitin sulphate
• Dermatan sulphate
• Heparan sulphate
• Keratan sulphate
• Heparin

9. 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

11. Diagnosis
• Urine test
• Enzyme assays
• Prenatal diagnosis
• Genetic counselling

12. Treatment
• No cure
• Medical care is given to improve quality of
life
– Physiotherapy
– exercise
– changes in diet

13. Type 1( Hurler’s)
• L- Iduronidase
• Mental retardation+++
• Skeletal deformity ++
• Corneal opacity++
• Dermatan Sulphate and Heparan Sulphate in
urine
• 1:100,000

14. Type 2 ( Hunter’s)
• Iduronate sulphatase
• Mental retardation+
• Skeletal deformity ++
• No Corneal opacity
• Deafness
• Dermatan Sulphate and Heparan Sulphate in
urine
• 1: 250,000

15. 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

16. 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

17. Type 5 ( Scheie’s)
• L- Iduronidase
• No Mental retardation
• Mild Skeletal changes
• Corneal opacity++
• Dermatan Sulphate in urine
• 1: 100,000

18. 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

19. Type 7 ( Sly’s)
• B- Gluronidase
• Mental retardation+
• Dermatan Sulphate and Heparan Sulphate in
urine
• <1: 250,000

20. 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

21. Reference
• DM Vasudevan, Sreekumari S and Kannan
Vaidyanathan, Textbook of Biochemistry for
Medical Students, 6th Edition.