HURLERâ€™S SYNDROME- A RARE CASE REPORT
G. Jayanthi*, K. Sowmya, Dr G. Ramya Bala Prabha Naidu, Sushanta Kumar Das and Dr K. Abbulu
Mucopolysaccharidosis type I (MPS I H, Hurler syndrome) is a rare autosomal recessive inborn deficiency in the metabolism of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, resulting from deficiency of Alpha-L-iduronidase enzyme. This condition is characterized by accumulation of incompletely degraded glycosaminoglycans into various organs of body, which leads to impairment of organs and body functions. Such children appear nearly normal at birth; however, if left untreated, show a progressive mental and physical deterioration leading to death due to cardiorespiratory failure before the second decade of life.
Keywords: glycosaminoglycans, Hurler syndrome, Mucopolysaccharidosis type I, Autosomal recessive, iduronidase.
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