Mucopolysaccharidosis (MPS)

It is a very rare metabolic disorder belonging to the group of lysosomal storage diseases. Its incidence is about 1 in 42.000 births.

Mucopolysaccharides are chains of sugar carbohydrates that help build connective tissue. Thanks to specific enzymes they are constantly broken down and rebuilt in the organism. In case of patients affected by mucopolysaccharidosis this process is interrupted due to the absence or malfunctioning of a given enzyme. Over time, these sugars collect in cells, blood and connective tissues leading to gradual damage of organs.

Seven distinct types of mucopolysaccharidosis have been identified worldwide. Five types have been registered in Poland. Each type is characterized by the shortage of a different enzyme.

Mucopolysaccharidosis is a disease which is very rare and the diagnosis is particularly difficult. Initially there are no symptoms. Preliminary diagnosis is usually made when a child is between 18 and 36 months old, when excessive storage of sugars becomes more evident. Having no previous experience with patients affected by mucopolysaccharidosis, many physicians neglect first symptoms of the disorder. Each child follows individual growth patterns therefore it is impossible to predict possible developments of the disease in a given case.

Common features for all the types (although not all of them are present in all patients) are:

  • enlarged liver and spleen
  • heart disease
  • joint stiffness
  • skeletal irregularities
  • impaired motor function especially frequent in types I-III
  • frequent infections, especially of the inner ear which may lead to hearing impairment
  • eye diseases
  • enlarged tongue
  • short neck
  • coarse hair
  • Prevention – screening

If you are parents of a child affected by mucopolysaccharidosis or if there are cases of that disease in your family, you should receive genetic counseling concerning another pregnancy or prenatal diagnosis and undergo genetic examination to determine whether you carry the mutated gene.

© Przemysław Racinowski