Early detection of a Rare disease is a huge challenge that physicians are facing worldwide. The average time for the accurate diagnosis of a rare disease is around 4.8 years. Better awareness among various specialties could be one of the key steps in its management. Introduction Lysosomal storage disorders (LSDs) are one of the rare disease disorders that result from the defective function of specific lysosomal enzymes.
Gaucher disease (GD) is one of the most common LSD with an approximate prevalence of 1 in 100,000 live births. It is a condition caused by the mutation in the GBA gene, which is responsible for the making of glucocerebrosidase enzyme. The unavailability of glucocerebrosidase in the cell halts the metabolism of lipid called glucocerebroside, resulting in its accumulation which further affects organs like liver, spleen, bone marrow and also the nervous system. Early…
