| Support group for MPS & Gaucher
- Mucopolysaccharidoses |
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| What is Mucopolysaccharidoses (MPS)? |
When unwanted Mucopolysaccharides (MPS
substances) accumulate in cells they cause MPS disorders. Mucopolysaccharides
otherwise called Glycose Amino Glycans (GAG) are long chain
sugary substances used in the building of bones, cartilages,
skin, tendons and many other tissues in the body. They form
part of the structure of the body and also give the body some
of the special features for eg, the slippery fluid that lubricates
the joints contains mucopolysaccharides. In our body, there
is a continuous process of building of new mucopolysaccharides
and breaking down of old ones. When this process is hampered
due to the deficiency of certain lysosomal enzymes (lysosomes
are like vacuum cleaners present in cells) which are responsible
for the degradation of GAGs, they accumulate in tissues and
affect normal development and functioning of the organs involved.
There are various types of MPS disorders depending on the deficiency
of enzymes, namely: |
|
| S.No. |
MPS Type |
Syndrome |
| 1 |
I |
Hurler (Hurler Scheie, Scheie - Milder Types) |
| 2 |
II A & B |
Hunter |
| 3 |
III A, B, C, D |
Sanfilippo |
| 4 |
IV A & B |
Morquio |
| 5 |
VI |
Maroteaux - Lamy |
| 6 |
VII 1,2,3 |
Sly |
| 7 |
XI |
Natowicz |
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| Various types of Mucopolysaccharidoses |
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| Common presentations of MPS |
| Though each type of MPS has some
distinct features of its own, the following are some of
the common features present more or less in all individuals
affected. However confirmation of the type is possible
only by enzyme assay.
Coarse facies, big head, impaired vision & audition,
corneal opacity, protuberant chest, kyphosis, scoliosis
(malformed spinal posture), other skeletal malformations,
short and broad hands with stubby fingers bent at the
tips, inguinal/umbilical hernia, respiratory (breathing)
problems, valvular problems in the heart, restricted limb
movements, excess hair growth all over and short stature.
The clinical manifestations of MPS may not be present
at birth and would evolve during infancy or still later.
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