Publication:

Hunter’s syndrome: a rare case report

Hunter’s syndrome also known as mucopolysaccridosis-II (MPS-II) is a very rare X-linked recessive disease. It is a chronic progressive metabolic disease. The incidence of this condition is 1 in 1, 62,000 live births, mostly males. There is excessive accumulation of glycosaminoglycan (GAGs) in the lysosome in various parts of body due to the deficiency of enzyme iduronate sulphatase (IDS) and manifests with variety of clinical signs and symptoms. Four novel mutations in IDS gene are reported among families of Hunter syndrome tested by Sanger sequencing of IDS gene.