Support group for MPS & Gaucher - Mucopolysaccharidoses
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
Various types of Mucopolysaccharidoses
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.