Lysosomal Storage Disorders
Why in News?
- India launched a pioneering national biobank for LSDs to aid research and therapy development amid over 12,000 affected patients, with only 7% treatable and high mortality rates.
- Lysosomal Storage Disorders (LSDs) are a group of over 70 rare, inherited metabolic diseases caused by enzyme deficiencies in lysosomes, leading to toxic buildup in cells.
Key Information
- Cause: Genetic mutations lead to a lack of enzymes needed to break down fats and sugars. These substances accumulate to toxic levels, causing progressive organ and tissue damage.
- Common Types:
- Gaucher Disease: Affects the spleen, liver, and bones.
- Pompe Disease: Causes progressive muscle weakness and heart problems.
- Fabry Disease: Primarily affects the kidneys, heart, and skin.
- Mucopolysaccharidoses (MPS): A group of disorders affecting skeletal and cognitive development.
- Symptoms: Vary by type but often include enlarged liver or spleen (hepatosplenomegaly), coarse facial features, skeletal deformities, and developmental delays.
- Inheritance: Most are autosomal recessive, meaning a child must inherit a mutated gene from both parents. A few, like Hunter syndrome and Fabry disease, are X-linked.
- Diagnosis: Primarily through blood tests for enzyme activity and genetic testing. Many countries are now exploring Newborn Screening (NBS) to catch these disorders before symptoms manifest.
- Current Treatments:
- Enzyme Replacement Therapy (ERT): Regular infusions of the missing enzyme; effective for systemic symptoms but often cannot cross the blood-brain barrier.
- Substrate Reduction Therapy (SRT): Oral medications that decrease the production of the material the body cannot break down.
- Stem Cell/Bone Marrow Transplants: Can be curative for certain types if performed early.
- Gene Therapy: An emerging field aiming for a permanent cure by introducing functional genes into the patient's cells.
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