An enzyme deficiency leads to a build up of molecules in connective tissues.
Dr Orlena Kerek last medically reviewed this article in February 2009
Mucopolysaccharide diseases
On this page
- What are mucopolysaccharide diseases (MPS)?
- Symptoms
- Causes and risk factors
- Treatment and recovery
- Advice and support
Page options
What are mucopolysaccharide diseases (MPS)?
MPS, also known as lysosomal storage diseases, are rare, life-threatening, progressive metabolic conditions each caused by a shortage of a particular enzyme.
The enzyme deficiency that results from mucopolysaccharide diseases means the body can't break down (metabolise) certain molecules called GAGs (glycosaminoglycans).
GAGs are structural molecules that are integral to connective tissues such as cartilage. They accumulate in cells within tiny structures called lysosomes. This leads to dysfunction the cells, resulting in dysfunction of tissues and organs.
There are many different types of MPS including: Hurler; Hunter; Sanfillipo; Morquio; Maroteaus-Lamy and Sly.
Symptoms
Patients with MPS appear normal at birth and usually present with developmental delay in the first year of life. The different types have slight variation in symptoms, which include problems with their eyes, skin, heart, bones and mental retardation.
Hurler syndrome (MPS 1) typifies MPS. It is the most severe form, progresses quickly and normally results in death by the age of 10. The clinical features of Hurler syndrome are:
- Coarse faces, large tongues, male-pattern hairiness and corneal clouding
- Airway problems and glue ear
- Skeletal deformities
- Cardiomyopathy (a problem with the heart muscle)
- Large liver and spleen
- Hernias
- Stiff joins
- Hearing loss
- Developmental delay and retardation
Causes and risk factors
MPS is an inherited disease. The majority of types are inherited by autosomal recessive transmission. That means that if both of your parents are carriers, you have a one if four chance of having the disease.
Treatment and recovery
Although there's no cure, enzyme replacement therapy (ERT) and bone marrow transplantation are available to treat some forms of MPS. People with MPS will need supportive care, including physiotherapy and attention to breathing problems.
Prenatal diagnosis is available using CVS (chorionic villus sampling) at about 11 weeks or amniocentesis at around 12-14 weeks.
Advice and support
- The Society for Mucopolysaccharide Diseases
- Tel: 0845 389 9901
- Email: mps@mpssociety.co.uk
- Website: www.mpssociety.co.uk
Disclaimer
All content within BBC Health is provided for general information only, and should not be treated as a substitute for the medical advice of your own doctor or any other health care professional. The BBC is not responsible or liable for any diagnosis made by a user based on the content of the BBC Health website. The BBC is not liable for the contents of any external internet sites listed, nor does it endorse any commercial product or service mentioned or advised on any of the sites. See our Links Policy for more information. Always consult your own GP if you're in any way concerned about your health.
See also
Around the BBC
Elsewhere on the web
bbc.co.uk navigation
BBC links
© 2012
The BBC is not responsible for the content of external sites. Read more.
This page is best viewed in an up-to-date web browser with style sheets (CSS) enabled. While you will be able to view the content of this page in your current browser, you will not be able to get the full visual experience. Please consider upgrading your browser software or enabling style sheets (CSS) if you are able to do so.
~RS~p~RS~(none)~RS~a~RS~(none)~RS~u~RS~/health/physical_health/conditions/mucopolysaccharide2.shtml~RS~r~RS~(none)~RS~q~RS~~RS~z~RS~13~RS~){kind=small}