Hunter’s syndrome: a rare case report

Akhila; Anupama Singh; Jayant Raj; Amit Shekharay; Vinod K. Mishra; Monika Singh; Om P. Singh

doi:10.18203/2349-3291.ijcp20242348

Authors

Akhila Department of Pediatrics, NMCH, Jamuhar, Sasaram, Rohtas, Bihar, India
Anupama Singh Department of Pediatrics, NMCH, Jamuhar, Sasaram, Rohtas, Bihar, India
Jayant Raj Department of Pediatrics, NMCH, Jamuhar, Sasaram, Rohtas, Bihar, India
Amit Shekharay Department of Pediatrics, NMCH, Jamuhar, Sasaram, Rohtas, Bihar, India
Vinod K. Mishra Department of Pediatrics, NMCH, Jamuhar, Sasaram, Rohtas, Bihar, India
Monika Singh Department of Pediatrics, NMCH, Jamuhar, Sasaram, Rohtas, Bihar, India
Om P. Singh Department of Pediatrics, NMCH, Jamuhar, Sasaram, Rohtas, Bihar, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20242348

Keywords:

Mucopolysaccharidosis, Glycosaminoglycan, Iduronate sulphatase, Iduronate sulfatase gene, Lysosomal storage disorder

Abstract

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.

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