Lysosomal storage disease

Lysosomal storage disease (pronunciation: ly·​so·​so·​mal stor·​age dis·​ease) is a group of metabolic disorders caused by the malfunction of lysosomes. The term originates from the Greek words lysis meaning "loosening" and soma meaning "body", referring to the function of lysosomes in breaking down cellular waste.

Definition

Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective, the large molecules accumulate within the cell, eventually killing it.

Types

There are several types of lysosomal storage diseases, each caused by a different enzyme deficiency. Some of the most common types include:

• Gaucher's disease
• Fabry disease
• Hunter syndrome
• Tay-Sachs disease

Symptoms

Symptoms of lysosomal storage diseases vary, but they generally include an enlarged liver or spleen (hepatosplenomegaly), developmental delay, and in some cases, bone abnormalities.

Diagnosis and Treatment

Diagnosis of lysosomal storage diseases often involves blood tests, urine tests, and genetic testing. Treatment typically involves enzyme replacement therapy, which can help to replace the deficient enzyme in the body.

See Also

• Metabolic disorder
• Enzyme deficiency
• Genetic disorder

External links

• Medical encyclopedia article on Lysosomal storage disease
• Wikipedia's article - Lysosomal storage disease

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