World Journal of
Pharmaceutical and Life Sciences

( An ISO 9001:2015 Certified International Journal )

An International Peer Reviewed Journal for Pharmaceutical and Life Sciences
An Official Publication of Society for Advance Healthcare Research (Reg. No. : 01/01/01/31674/16)
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Dr. Sikander Ali*, Muhammad Waqar and Arzoo Afzal


Mucopolysaccharidosis type I (MPS I) is a disease caused by the deficiency of alpha-L-iduronidase (a lysosomal enzyme), as a result of which glycosaminoglycans accumulate resulting in progressive multi-organ dysfunction. Cases of MPS I are classified into severe and attenuated forms. Hurler syndrome is the severe form and Hurler-Scheie and Scheie syndromes are the attenuated forms. It has broad clinical spectrum which differs in both severe and attenuated phenotypes. It is a rare disease. One case is seen in one lac births. Its diagnosis is established by clinical and laboratory findings, molecular gene testing and detecting the deficiency of alpha-L-iduronidase. Two treatment options i.e. hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) are available. Disease management of MPS I is not consistent because of heterogenous phenotypes, few therapeutic options and rarity. Information about the history of MPS I may aid in the management of affected individuals.

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