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  • 2.1: Overview of symptoms
  • 2.2: Overview of treatment
  • 2.3: Which are the MPS Diseases
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Overview of Mucopolysaccharide and related diseases

Mucopolysaccharide and related diseases are individually rare; cumulatively affecting 1:25,000 live births. One baby born every eight days will be diagnosed with an MPS or related disease. These multi-organ storage diseases cause progressive physical disability and, in many cases, severe degenerative mental deterioration resulting in death in childhood.

Incidence

Since 1980 the Society has maintained a research database to identify the incidence of Mucopolysaccharide and related diseases in the United Kingdom.

In the period of 1974 to 1991 there have been 13,820,825 children born in the UK. These figures represent a mean annual birth rate of 737,823. In the same period a minimum incidence of 511 diagnoses of MPS diseases were recorded representing a mean annual birth rate of 28.4. This represents our overall minimum incidence of MPS and related diseases of 1:26,000, with specific incidences as follows:

• Hurler: 1:115,000
• Hunter: 1:166,000
• Sanfilippo: 1:89,000
• Morquio: 1:220,000

Definition of MPS

Mucopolysaccharides are long molecular chains of sugar. They are used by the body in the building of connective tissues. The word 'mucopolysaccharide' can be broken down as follows:

• 'muco' refers to the thick jelly-like consistency of the molecules
• 'poly' means many
• 'saccharide' is a general term for a sugar molecule

Inheritance

We all have genes inherited from our parents, which control our height, eye colour, hair colour etc. Some genes we inherit are recessive which means that although we carry the gene, it does not have any effect on our characteristics or development. Mucopolysaccharide diseases are caused by such recessive genes. In all MPS and related disorders except Hunter Disease, both men and women can be carriers. More information on this complex subject can be found in the Society's booklet on the Pattern of Inheritance in MPS and related diseases, including Fabry Disease.

Overview of symptoms

Overview of treatment

Which are the MPS and related diseases