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 are the symptoms of lysosomal storage disease?
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.
Is Tay Sachs a lysosomal storage disorder?
Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of an enzyme (hexosaminidase A) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells. This disorder is categorized as a lysosomal storage disease.