Maroteaux Lamy syndrome and Hurler-Scheie syndrome.

      Аннотация: The diagnosis of rare genetically inherited metabolic disorders such as mucopolysaccharidoses is complicated by the lack of confirmatory sophisticated laboratory tests in many regions of the world such as Iraq. In the developed countries, the diagnosis of mucopolysaccharidoses relies on urine tests for excessive mucopolysaccharides and enzyme assays. However, theses tests are not available in many areas of world such as Iraq, and the diagnosis has to be made on clinical findings. Clinical diagnosis of rare disorders like mucopolysaccharidoses demands tremendous clinical skills and extensive experience because of the similarity between different types of mucopolysaccharidoses. The emergence of the new enzyme replacement therapies for some types of mucopolysaccharidoses raises the importance of the clinical diagnosis of such disorders to give the patients the chance to have the new therapy in an other country when this is possible. Maroteaux-Lamy syndrome and Hurler-Scheie syndrome have not been described or documented in Iraqi patients. The aim of this book is to describe the clinical diagnosis of these disorders in patients from Iraq.

Ключевые слова: Mucopolysaccharidoses, Maroteaux-Lamy syndrome, Hurler-Scheie syndrome