Background: Mucopolysaccharidosis type I (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. An interesting case of a 19 year old male with a combination of skeletal, neurological, ophthalmologic, and radiological findings with MPS I-(Hurler syndrome) has been presented here in this case report.
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Thapa et al. (2024) studied this question.
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