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Lysosomal Storage Disorders

What are Lysosomal Storage Disorders?

Lysosomal storage disorders are inherited disorders caused by a deficiency of specific enzymes that are normally required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAGs). If a specific lysosomal enzyme is not present in sufficient quantities, the normal breakdown of GAGs is incomplete or blocked. The cell is then unable to excrete the carbohydrate residues and they accumulate in the lysosomes of the cell. This accumulation disrupts the cell’s normal functioning and gives rise to the clinical manifestations of lysosomal storage disorders.

Types of Lysosomal Storage Disorders

To date, the scientific community has identified nearly 50 types and subtypes of Lysosomal Storage Disorders, and new types continue to be identified. Although the different types of lysosomal storage disorders are rare individually, when taken together they are estimated to affect about 1 in 7,700 births, American Society of Gene & Cell Therapy, making them a relatively common and significant health problem.
All lysosomal storage disorders are progressive, with the rate of progression, the severity of symptoms, and the organ systems affected varying between disorders and even within each disorder type. Lysosomal storage disorders affect different body organs or systems including the skeleton and joints, eyes, heart, lungs, kidneys, skin, and frequently the central nervous system.

Diagnosis of Lysosomal Storage Disorders

All lysosomal storage disorders are inherited in an autosomal recessive manner (both parents must be carriers of the abnormal gene), except Hunter syndrome (MPS II) and Fabry disease, which are X-linked recessive disorders. The highly variable clinical presentation and the rareness of each individual disorder frequently contribute to missed or delayed diagnosis. Diagnosis of a lysosomal storage disorder is usually the result of a physician recognizing a pattern of the various presenting symptoms; a definitive diagnosis may take many years during which other possible conditions are assessed and excluded. Specialized laboratories offer the specific enzyme assays or mutation analyses, which confirm or rule out the diagnosis of a lysosomal storage disorder.

Treatment Options for Lysosomal Storage Disorders

At present, there are no known cures for lysosomal storage disorders. Progress, however, continues to be made toward finding treatment options that go beyond treating the multiple symptoms of the disease and aim to address the underlying causes. Today, bone marrow transplantation and enzyme replacement therapy are available treatment options for patients with certain types of lysosomal storage disorders. Additionally, the scientific community continues to conduct research in the hopes of meeting the needs of patients suffering from all types of this disorder.

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Lysosomal Storage Disorders (MPS I, MPS IVA, MPS VI, CLN2 disease) PKU



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