What is the most common lysosomal storage disease?
Gaucher disease is one of the most common lysosomal storage disorders (LSDs).
LSDs are inherited disorders resulting from a lack of specific enzymes that break down certain lipids (fats) or carbohydrates (sugars) in the body cells.
What are lysosomal storage diseases give example?
By type of defect protein
|Type of defect protein||Disease examples||Deficient protein|
|Lysosomal enzymes primarily||Tay–Sachs disease, I-cell disease, Sphingolipidoses (e.g., Krabbe disease, gangliosidosis: Gaucher, Niemann–Pick disease and glycolipids: Metachromatic leukodystrophy)||Various|
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What is lysosomal storage disorder disease?
Lysosomal storage disorders are a group of more than 50 rare diseases. Without those enzymes, the lysosome isn’t able to break down these substances. When that happens, they build up in cells and become toxic. They can damage cells and organs in the body.
What are the lysosomal storage disorders and what are the symptoms?
Symptoms of Lysosomal Storage Diseases
- Delay in intellectual and physical development.
- Facial and other bone deformities.
- Joint stiffness and pain.
- Difficulty breathing.
- Problems with vision and hearing.
- Anemia, nosebleeds, and easy bleeding or bruising.
- Swollen abdomen due to enlarged spleen or liver.