Mucopolysaccharidosis Type -Ii: A Rare Case of Hunter Syndrome

Abstract

Mucopolysaccharidoses (MPS) are rare genetic diseases lysosomal
storage disorders, in
which there is deficiency of certain specific
lysosomal enzymes involved in the glycosaminoglycan (GAG)
breakdown pathway. Hunter syndrome is type 2 MPS caused by a
deficiency of the lysosomal enzyme iduronate
-
2
-
sulfatase. It is a
rare genetic syndrome of
x linked recessive inheritance with a
prevalence of 1:100,000 births. It is a hetrogenous disease with
multisystem involvement including skeletal, joint, airway,
cardiac, and hearing and vision impairment with mild to severe
mental retardation. Treatment o
ption includes haematopoietic
stem cell transplantation and recombinant i.v. enzyme
replacement therapy, here we discussed a case of hunter
syndrome that presented in our hospital with typical features of
hunter syndrome, and was diagnosed with specific en
zyme assay