Besides, the authorities have failed to establish a special unit at IGICH even a year after making budgetary allocation in February 2014, they alleged.
Since children are involved, we direct the medical authorities to provide free treatment to those suffering from Gaucher’s, Pompe, Fabry and four types of MPS, the court said.
What are Lysosomal Storage Disorders
Lysosomal Storage Disorders (LSD) are genetically inherited diseases caused by deficiency of vital enzymes.
They occur due to defects in lysosomes, which are sacs of enzymes within cells that digest large molecules and pass on fragments to other parts of the cells for recycling.
Only seven -Gaucher’s, Pompe, Fabry and four types of MPS (Hurler syndrome, Hunter syndrome, Morquio syndrome and Maroteaux-Lamy syndrome) -have definitive treatment in the form of enzyme replacement therapy.Symptoms: Developmental delay, movement disorders, seizures, dementia, deafness, blindness, enlarged livers, enlarged spleens, pulmonary and cardiac problems and abnormal growth of bones. LSD patients also show clinical symptoms owing to death of cells, resulting in early fatality o slow, painful death besides life threatening complications.