Lysosomal storage disorder
Lysosomal Storage Disorder
Lysosomal storage disorder (pronunciation: ly·so·so·mal stor·age dis·or·der) is a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. The term "lysosomal storage disorder" is derived from the Greek words "lysis" which means "loosening" or "dissolving", and "soma" which means "body".
Definition
Lysosomal storage disorders are a group of inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies. These disorders can affect multiple organs, including the skeleton, brain, skin, heart, and central nervous system.
Classification
Lysosomal storage disorders are classified according to the nature of the primary stored material involved. These include:
- Mucopolysaccharidoses: These are caused by the deficiency of enzymes needed to break down molecules called glycosaminoglycans.
- Sphingolipidoses: These are caused by the deficiency of enzymes needed to metabolize a group of lipids known as sphingolipids.
- Glycoproteinoses: These are caused by defects in the degradation of glycoproteins.
- Lipofuscinoses: These are caused by defects in the degradation of lipofuscin.
Symptoms
The symptoms of lysosomal storage disorders vary depending on the specific disorder and the severity of the enzyme deficiency. Common symptoms include developmental delay, movement disorders, seizures, dementia, deafness, and blindness.
Diagnosis
Diagnosis of lysosomal storage disorders often involves blood tests, urine tests, genetic testing, and tissue biopsy. Enzyme analysis can also be performed to determine the specific enzyme deficiency.
Treatment
Treatment for lysosomal storage disorders is largely supportive and depends on the specific disorder. This may include enzyme replacement therapy, substrate reduction therapy, or hematopoietic stem cell transplantation.
External links
- Medical encyclopedia article on Lysosomal storage disorder
- Wikipedia's article - Lysosomal storage disorder
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