These rare lysosomal diseases are each caused by a different enzyme deficiency. This results in Mucopolysaccharides being stored in cells of the body causing progressive damage.

In most children growth is restricted and some diseases cause progressive mental as well as physical disability. Many of the diseases are associated with death in childhood.

At present there is no cure for these conditions. Bone marrow transplantation is an option for a small number of these conditions. Enzyme replacement therapy for Fabry disease and MPS I has been developed. Phase three human clinical trials for MPS II and MPS VI are currently taking place.

The Mucopolysaccharide diseases are classified as MPS I-IX. They are named after the doctor who first described them:
Hurler (MPS IH) alpha-L-iduronidase deficiency
Hurler Scheie (MPS IHS) alpha-L-iduronidase deficiency (formerly MPS V)
Scheie (MPS IS) alpha-L-iduronidase deficiency
Hunter (MPS II) alpha-L-iduronidase-2-sulphate-sulphatase deficiency
Sanfilippo (MPS III) Four distinct enzyme abnormalities, same clinical patterns
Morquio (MPS IV) A Galactosamine-6-sulphate sulphatase
Morquio (MPS IV) B beta-Galactosidase
Maroteaux Lamy (MPS VI) N-acetyl galactosamine-4-sulphatase deficiency
Sly (MPS VII) beta-gluconidase deficiency
MPS IX Hyaluronidase deficiency

The mucolipidoses and other storage diseases are as follows:
ML I Neuramidase Deficiency
ML II I Cell disease (also known as Leroy syndrome)
ML III Pseudo Hurler Polydystrophy
ML IV
Sialidosis
Fucosidosis
Mannosidosis
Sialic Acid Storage disease
Multiple Sulphatase Deficiency
Aspartylglycosaminuria
Winchester syndrome
Fabry disease

Inheritance patterns
All these conditions are autosomal recessive except Hunter disease (MPS II) and Fabry disease which are X-linked.

Prenatal diagnosis
This is available for most types of Mucopolysaccharidoses and related conditions. Usually the procedure can take place at ten to twelve weeks using chorionic villus sampling (CVS). Alternatively amniocentesis may be performed at twelve to sixteen weeks.

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith. Last updated February 2003 by Dr J E Wraith, Consultant Paediatrician, Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

THE SOCIETY FOR MUCOPOLYSACCHARIDE DISEASES

The Society for Mucopolysaccharide Diseases
MPS House
Repton Place
White Lion Road
Amersham HP7 9LP
Tel: 0845 389 9901
Fax: 0845 389 9902
e-mail: mps@mpssociety.co.uk
Web: http://www.mpssociety.co.uk

The Society is National Registered Charity No. 287034, established in 1982. It offers a needs-led service in areas of special educational needs, home adaptations, welfare benefits, palliative care and short breaks. The Society publishes a quarterly newsletter and a large range of printed material for affected families and professionals. The Society facilitates twelve regional MPS clinics throughout the UK. It holds the European Registry of Mucopolysaccharide and Related diseases and is able to demonstrate incidence and epidemiology for these diseases as well as specific anonymised data to researchers and the biotech industry. The Society represents approximately 1,200 individuals affected by MPS and Related diseases and their families. It is estimated that at any particular time there will be about 800 living sufferers, including those with Fabry disease, in the UK.

Group details last confirmed March 2007.