Publication:

Experience of enzyme replacement therapy for attenuated mucopolysaccharidosis I in Marathawada, India-a case report

Mucopolysaccharidosis (MPS) type I is an autosomal recessive lysosomal storage disease caused by deficiency on the enzyme α-L-iduronidase. The spectrum of severity ranges from most severe Hurler syndrome, Hurler-Scheie syndrome to mildest form as Scheie syndrome. Enzyme replacement therapy (ERT) with recombinant α-L-iduronidase (laronidase) has shown to significantly improve the quality of life in children. Here we want to describe clinical characteristics, enzyme activity and genetic finding in the first patient with MPS type I who received aldurazyme replacement therapy in Marathwada, India.