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Case Report of Mucopolysaccharidosis type -1 (MPS-1)
Dr. Arzoo Yadav, Dr. Ashna Garg, Dr. Subhash Choudhary, Dr. Hemant Kumar Mishra
DOI : 10.5281/zenodo.7874447
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Abstract

Mucopolysaccharidosis (MPS) represents a heterogenous group of inheritable lysosomal storage disease in which accumulation of undegraded glycosaminoglycans (Gags)- {dermatan sulfate & heparan sulfate}interfere with cell functions and leads to progressive damage of affected tissue. Radiological features; skeletal radiograph and MRI allows theassessmentof the severity of the disease (10). The case highlights that abnormal clinical symptoms, such as growth failure, coarse facial features, and joint problems, are key points for further investigation relating to mucopolysaccharidosis disease. Deficiency of α-L-iduronidase results in a wide range of clinical involvement from severe Hurler disease to mild Scheie disease (MPS I S) & intermediate form Hurler-Scheie disease (MPS I HS) (2).

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