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Context: Many children facing rare genetic Gaucher disorder diseases have had their treatments stopped by the centres of excellence (CoEs) after exhausting the one-time support provided by the Union health ministry.

Gaucher disease

• Gaucher disease is a rare genetic disorder that affects different organs and tissues in the body. It is caused by a mutation in the GBA gene, which leads to a deficiency of an enzyme called glucocerebrosidase (GCase). This enzyme is responsible for breaking down fatty substances called sphingolipids, which are normally found in the cell membranes.
  • When GCase is lacking, sphingolipids accumulate in the lysosomes, which are the cell's recycling centres. This causes damage and dysfunction of the cells, especially in the spleen, liver, bone marrow and nervous system.
• Gaucher disease is inherited in an autosomal recessive pattern, which means that both parents must carry a mutated copy of the GBA gene to pass it on to their child.

Diagnose and Care

• The disease is diagnosed by measuring the activity of GCase enzymes in blood or tissue samples. Genetic testing can also confirm the presence of mutations in the GBA gene. Other tests such as blood counts, liver function tests, bone density scans and imaging studies can help assess the extent of organ involvement and monitor the response to treatment.
• There is no cure for Gaucher disease, but treatment can help reduce symptoms and improve quality of life.

Conclusion

• Regular monitoring and specialized care are crucial to prevent complications and enhance quality of life. Genetic counselling is recommended for family planning or understanding the risk of passing on the condition.

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