Mucopolysaccharidosis type 1 (MPS IH, Hurler syndrome) is a rare genetic disorder caused by deficiency of enzyme α-L- iduronidase, which is needed for degradation of glycosaminoglycans (GAG) (dermatansulfate & heparansulfate). Incomplete degradation of these substances, resulting in intralysosomal accumulation of glycosaminoglycan fragments. The distended lysosomes accumulate in the cell in various organs of the body, interfere with cell function & lead to the characteristic pattern of clinical, radiological, and biochemical abnormalities^(1,3). Deficiency of α-L-iduronidase results in a wide range of clinical involvement from severe Hurler disease to mild Scheiedisease (MPS I S) & intermediate form Hurler-Scheie disease (MPS I HS). Hurler syndrome is a progressive disease which if left untreated, results in mental & physical deterioration leading to significant morbidity & mortality⁽¹⁾. There are very few cases of Hurler syndrome reported in India. Here we are presenting an eight-year-old boy with a combination of clinical, radiological & biochemical features confirmed as a case of Hurler syndrome.

Keywords: Mucopolysaccharidosis, Hurler syndrome, Scheiedisease, Glycosaminoglycans, dermatansulfate, heparansulfate.

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Dr Boyapati Srilakshmi

Residents, Department of Paediatrics, Guntur Medical College, Guntur, Andhra Pradesh, India, 522004