Lysosomal Diseases Respond to Enzyme Replacement Therapy

About one in 6,000 people are affected by one of the rare disorders collectively known as lysosomal diseases or lipid storage diseases. These hereditary diseases cause enzymatic malfunctions in cellular organelles called the lysosomes. Lysosomal enzyme deficiencies can lead to organ failure, nerve damage, and early death. Fortunately, medical researchers have developed successful treatments for some lysosomal diseases. Promising therapies for more of these diseases are on the way.

Gaucher's Disease Saw Early Enzyme Replacement Therapy Success

Some of the lysosomal diseases subject to current therapy development research include mucopolysaccharidosis, Batten disease, mucolipidosis, glycoproteinosis, GM2-gangliosidosis and Wolman disease. Effective enzyme replacement therapies have been available for several years to treat the lysosomal disorders Gaucher's disease, Pompe disease and Fabry's disease.

Treatment varies from disease to disease, but promising approaches include the infusion of an enzyme to replace the patient's missing lysosomal enzyme. These enzymes are produced using genetic engineering techniques and are usually administered at periodic intervals for the rest of a patient's life. Additional treatments in experimental development include gene replacement therapy and simpler drugs that may reduce the need for enzyme replacement therapy.

Gauchers disease was the first lysosomal disease for which recombinant enzyme replacement therapy was developed. This disease is caused by a deficiency in an enzyme called glucocerebrosidase. The first human enzyme replacement therapy for Gauchers disease was based on protein purified from human placental tissue. A very expensive genetically engineered form of the enzyme was introduced in 1994 and has been successfully used to treat thousands of patients around the world. A new version of the human enzyme, produced less expensively in plant cells, is nearing FDA approval.

Lysosomal Disorder Diagnosis is Difficult

Lysosomal diseases can be difficult to diagnose, in part because they are rare, and in part because their symptoms sometimes mimic other diseases. Diagnosis usually requires a combination of biopsy, genetic analysis and enzyme assays. Genetic analysis can also determine if a person carries the defective gene without experiencing any of the symptoms of the disease.

In addition to difficulty in obtaining a clear diagnosis, it can be challenging to find a specialist with experience in a specific disease that affects only a few thousand patients worldwide. Finding effective treatment for one of these disorders requires hard work and a commitment to medical advocacy.

Fortunately, research is making good progress in treating or controlling these diseases so that an affected person can live a relatively normal life. Increasing availability of information resources, including the internet, is improving awareness of these diseases, leading to better access to effective support for patients and their families.


National Institutes of Health -- MedlinePlus, "Lysosomal Storage Diseases" (accessed May 13, 2010)

Lysosomal Disease Network, "Disease Details" (accessed May 13, 2010)

This article was first published on Suite101.

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