Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report

Abstract

Mucopolysaccharidosis I (MPS I) is a rare inherited disorder that belongs to a group of clinically progressive disorders and is caused by the deficiency of the lysosomal enzyme, α1 -iduronidase. MPS I has been recently classified into a severe (Hurler syndrome) and an attenuated type (Hurler-Scheie and Scheie syndromes). The purpose of this article was to describe a rare case of MPS type I, attenuated type (Hurler-Scheie) affecting a 15-year-old Indian child.

Keywords

• Autosomal recessive
• iduronidase
• mucopolysaccharidosis