Experience of enzyme replacement therapy for attenuated mucopolysaccharidosis I in Marathawada, India-a case report
Keywords:MPS type I, Hurler Scheie disease, ERT, Lysosomal storage disease, Attenuated MPS
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.
Clarke LA. Mucopolysaccharidosis Type I. In: Adam MP, Ardinger HH, Pagon RA editors. GeneReviews®. Seattle (WA): University of Washington, Seattle, 1993-2021.
Jameson E, Jones S, Remmington T. Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I. Cochrane Database Syst Rev. 2019;6(6):CD009354.
Al-Sannaa NA, Bay L, Barbouth DS. Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships. Orphanet J Rare Dis. 2015;10:13.
Muranjan M, Karande S. Enzyme replacement therapy in India: Lessons and insights. J Postgrad Med. 2018;64:195-9.