Mucopolysaccharidosis Type -Ii: A Rare Case of Hunter Syndrome

Alankar Tiwari (1) , Dr.Manish Srivastav (2) , Keshav Kumar Gupta (3)
(1) Senior Resident(academic),Department of Human Metabolism and Endocrinology, Lala Lajpat Rai Memorial Medical College,Meerut, India , India
(2) Senior Resident(academic),Department of Human Metabolism and Endocrinology, Lala Lajpat Rai Memorial Medical College,Meerut, India , India
(3) Senior Resident(academic),Department of Human Metabolism and Endocrinology, Lala Lajpat Rai Memorial Medical College,Meerut, India , India

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

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Authors

Alankar Tiwari
Dr.Manish Srivastav
drmanishkool@gmail.com (Primary Contact)
Keshav Kumar Gupta
Tiwari, A., Srivastav, D., & Kumar Gupta, K. (2022). Mucopolysaccharidosis Type -Ii: A Rare Case of Hunter Syndrome. Journal of Medical Case Reports and Reviews, 3(01). Retrieved from http://jmcrr.info/index.php/jmcrr/article/view/59
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