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Lysosomal storage disorders

Lysosomal storage diseases (LSD’s) are inherited metabolic diseases characterized by an abnormal build-up of toxic materials in the body's cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system. New lysosomal storage disorders continue to be identified. The incidence is approximately 1 in 7,000 births.  One of the main objectives of the service is to increase the benefits of treatment for patients with LSDs with particular reference to the use of enzyme replacement therapy.  

Information about the service

This service provides diagnosis and management for patients with LSDs. Clinics occur fortnightly on Tuesday mornings and are multi-disciplinary, with investigations and tests occurring as part of a One Stop clinic with multiple health professional appointments.

Conditions seen include:

  • fabry Disease – an X-linked lysosomal disorder which can affect kidneys, heart and skin
  • gaucher Disease – an autosomal recessive lysosomal disorder which can cause enlarged liver and spleen and low platelets
  • MPS disorders – a group of autosomal recessive lysosomal disorders (except MPS II, which is X-linked).
  • pompe Disease is an autosomal recessive lysosomal disorder (classified as glycogen storage disorder type II) which leads to weakened hip and shoulder muscles
  • other sphingolipid storage disorders eg: Taysachs, Sandhoff’s, MPS III
  • niemann Pick C

Last reviewed: 06 June 2023