LYSOSOMAL STORAGE DISORDER

Subject: Science & tech

Context: Supreme Court recently upheld a verdict given by the Madras High Court urging the State government to allocate funds for the treatment of children with LSD.

Concept:

• The lysosomes are primary digestive units within cells. Their function is to break down complex components into simpler ones. They degrade complex components such as proteins (substrates) into simpler components
• When this process does not take place due to enzyme deficiency, the toxic substrates begin to accumulate in the cells. That is why these diseases are called “storage diseases”.
• Therefore, Lysosomal storage diseases are inherited metabolic diseases(Rare disease) that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.
• Most lysosomal storage disorders are inherited in an autosomal recessive manner.
• There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system
• There is currently no approved treatment for many lysosomal storage diseases.

Rare Diseases

• A rare disease is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population.
• There is no universally accepted definition of rare diseases and the definitions usually vary across different countries.
• Though rare diseases are of low prevalence and individually rare, collectively they affect a considerable proportion of the population.
• 80% of rare diseases are genetic in origin and hence disproportionately impact children.
• In India there are 56-72 million people affected by rare diseases.