Addenbrooke's Lysosomal Disorders Unit
Metabolic disease awareness week 2014
23 – 29 June 2014
Inherited Metabolic Diseases are rare genetic diseases for many of which there is no cure. The team from the lysosomal service also provide medical support and advice for patients with other inherited metabolic disorders in conjunction with patient groups such as CLIMB. Like CLIMB we want to raise awareness of metabolic diseases, which will help towards better understanding, quicker diagnosis and better outcomes for patients. CLIMB covers over 700 metabolic diseases, a list of these is available on their website www.climb.org.uk. For further information, please contact:
Freephone number: 0800 652 3181
or email firstname.lastname@example.org
Lysosomal Disorders Unit
Tel: 01223 274 634
Fax: 01223 256 172
Lysosomal storage diseases are a group of rare inherited metabolic disorders that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies. There are nearly 50 of these altogether and new lysosomal storage disorders continue to be identified.
They can be classified by the nature of the primary stored material involved, and can be broadly broken into the following groups:
- Glycosphingolipidoses - Including Gaucher, Fabry, Sandhoff, Tay Sachs, Metachromatic Leukodystrophy & Niemann Pick A & B disease
- Mucopolysaccharidoses - MPS I (Hurler), MPS II (Hunter), MPS III (San Filippo), MPS IV (Morquio), MPS VI (Maroteaux Lamy) MPS VII (Sly)
- Glycoproteinoses - eg Schindler disease
- Other - eg Pompe, Danon, Niemann-Pick C, I Cell, Battens disease
Different diseases may affect various parts of the body, including the skeleton, brain, skin, heart, liver, kidney and central nervous system. Some of the lysosomal disorders now have licensed treatments available, and others are currently the subject of clinical and academic research. Symptom support and management is offered for those disorders currently without an approved treatment.
Addenbrooke's Hospital provides services for investigation and management of these diseases in both children (in the Children’s Metabolic Unit) and adults (in the Lysosomal Disorders unit).