MPS(Mucopolysaccharidosis)

MPS is an acronym of mucopolysaccharidosis . It is a genetic disprder in children and adult. THE mps is considered a part of lysosomal storage disorder. MPS is basically abnormal storage of mucopolysaccharides which is caused due to absence of an enzyme.

Types

  • Four types of MPS have been identified
  • MPS Type-I (Hurler Syndrome)
  • MPS Type-II (Hunter Syndrome)
  • MPS Types-III ( Sanfilippo Syndrome)
  • MPS Type-IV  (Morquio Syndrome)


MPS Type-I (Hurler Syndrome)
It results in the buid up of mucopolysaccharides due to deficiency pf alpha-L-iduronidase enzyme. It has an autosomal recessive pattern of inheritance. Developmental delay is seen by the end of first year and children usually stop developing between age 2 to 4 years. The children show hepatosplenomegaly, dwarfism, progressive mental retardation as key features. Enzyme replacement therapy is the main treatment available. Bone Marrow Transplantation and Umbilical Cord Blood Transplantation are also being used for treatment. Habilitation services are mainstay in the management of the child. Gene therapy will be the answer of this order in the long run

 
MPS Type-II (Hunter Syndrome)
It is a genetic condition where boys are mostly affected. This condition is due to a lack of iduronate sulfatase enzyme. As mucopolysaccharides are not broken properly, it build up in the body which shows symptoms:

  • Aggressive behaviors
  • Hyperactivity
  • Mental Retardation
  • Spasticity

There is no cure available. Treatment is symptomatic. Medicine like Idursulfane is given intravenously. Bone Marrow Transplantation is also being done with limited success. Gene therapy has been seen one of the suitable options. Habilitation services are required along with medication.

MPS Types-III (Sanfilippo Syndrome)
It is a genetic disorder where the brain is the primary target of the disorder. The onset of the disorder may be very early to fourth decades of life. Due to disorder the brain function decline with time. Breathing and hearing may be difficult for the individual. The incidence of all MPS III is estimated to be 1 in 25,000 live births.
Management requires a team approach. Treatment is symptomatic. Habilitation services are the primary options of the management. Haematopoetic Stem Cell transplantation and Enzyme Replacement Therapy are also available with limited success. Although there is no cure but Gene therapy holds promise.

MPS Type-IV  (Morquio Syndrome)
It is a genetic disorder where the body lacks enough enzyme needed to break glycosaminoglycans. In this condition, abnormally large amount of glycosaminoglycans is stored in the body / brain which causes problems like hyper-mobile joints, macrocephaly,  abnormal development of bones (Dwarfism) and widely spaced teeth. There is no cure available. Treatment is symptomatic. Management requires team effort. Children with this condition generally have good mental ability. Orthopedic procedure for the spine may help these individuals.