Mucopoly saccharidosis type maroteaux-lamy, a case report

Abstract

AbstractMucopolysaccharidosis type maroteaux-lamy is a very rare hereditary disease. The disease is marked by the deficiency of the lysosomal enzyme N-Acetyl galactosamine--4-sulfate sulfatase (arylsulfatase B). It is inherited as an autosomal recessive trait. The most clinical manifestations are: corneal clouding, organomegaly, hernias, coarse facial features, cardiac insufficiency and skeletal abnormalities (dysostosis multiplex). The mental performance remains relatively normal.This is a case report of a child with clinical manifestations of mucopolysaccharidosis type maroteaux-lamy.

Keywords

• Metabolic disorders
• mucopolysaccharidosis type maroteaux-lamy