Lysosomal Storage Disorders

The lysosome is a complex little organelle within our cells that has the job of recycling complex molecules by breaking them down into their constituent parts, by lysosomal enzymes, step by step. One of these many steps may be blocked due to a genetic deficiency of an enzyme and this results in a lysosomal storage disorder (LSD). LSDs are a group of inherited disorders characterised by progressive build up (‘storage’) of material within the lysosome. This in turn causes progressive health problems. There are over 50 different LSDs and each affects the body slightly differently. For example, in some disorders the brain is the main organ involved while in others the brain is not affected at all, similarly the bones, kidneys, heart etc.

There have been major advances in the medical and scientific knowledge about these disorders in recent years and treatments have evolved for some, but unfortunately, not all, yet. The most common lysosomal storage disorders seen in Ireland are Fabry disease, Hurler syndrome (mucopolysaccharidosis type IH) and I-cell disease (mucolipidosis type II) but at NCIMD we also see many patients with much rarer types. We aim to oversee the multidisciplinary care of these complex patients and co-ordinate treatments, where available. We participate in clinical trials and registries to promote knowledge and understanding of these rare disorders.

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The Irish MPS Society

The Irish MPS society is a voluntary support group for all those with mucopolysaccharide and related diseases, their families, carers and professionals. For more details, please follow this link