Lysosomal storage diseases
Lysosomal storage diseases (pronunciation: ly-so-so-mal stor-age dis-eases) 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.
Etymology
The term "lysosomal storage diseases" was coined in the late 20th century. The word "lysosome" comes from the Greek words "lysis," which means "loosening," and "soma," which means "body." This is because lysosomes break down or "loosen" molecules in the body. The term "storage diseases" refers to the accumulation of undigested molecules in the lysosomes.
Types of Lysosomal Storage Diseases
There are several types of lysosomal storage diseases, each caused by a specific enzyme deficiency. These include:
- Gaucher's disease (pronunciation: go-shayz dis-ease)
- Fabry disease (pronunciation: fab-ree dis-ease)
- Niemann-Pick disease (pronunciation: nee-man-pick dis-ease)
- Tay-Sachs disease (pronunciation: tay-saks dis-ease)
- Mucopolysaccharidoses (pronunciation: mu-co-po-ly-sac-cha-ri-do-ses)
Symptoms
The symptoms of lysosomal storage diseases vary depending on the specific disease, but they generally include developmental delay, movement disorders, seizures, dementia, and early death.
Diagnosis
Diagnosis of lysosomal storage diseases often involves genetic testing, enzyme analysis, and imaging studies.
Treatment
Treatment for lysosomal storage diseases is largely supportive and includes symptom management. In some cases, enzyme replacement therapy or bone marrow transplantation may be used.
Related Terms
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