A Child Presenting with Mucopolysaccharidosis

The lysosomal storage disorders are a group of diseases that typified by an accumulation waste products in the lysosomes. Mucopolysaccharidoses due to diverse enzyme deficiencies. Ms HT was 2 years and 5 months old when she presented our metabolic bone clinic with clinical features were suggestive genetic syndrome associated disease. urine GAG spot test positive. MPS screen identified reduction arylsulfatase B activity sequencing ARSB gene detected pathogenic variant, keeping Maroteaux-Lamy syndrome. diagnosis is confirmed GAG, analysis testing. available treatments include hematopoietic stem cell transplantation, replacement therapy surgery. MPSs heterogeneous, progressive, multisystem for which often delayed. Greater awareness will enable early treatment. Treatment however costly frequently unavailable patients public sector.