Lysosomal Disorders

Lysosomal Disorders Unit

Adult Services Lysosomal Disorders Unit

Box 135
Cambridge University Hospitals
NHS Foundation Trust
Hills Road

Tel: 01223 274634
Fax: 01223 256172

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.

CUH 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).