Author/Authors :
Houshmand، Massoud نويسنده , , Tonekaboni، Seyed Hassan نويسنده , , Karimzadeh، Parvaneh نويسنده , , ARYANI، Omid نويسنده Senior Researcher, Molecular Genetics, Department of Medical Genetics, Special Medical Center, Tehran, Iran , , ASHRAFI، Mahmoudreza نويسنده 4. Professor of Pediatric Neurology, Growth and Development Research Center, Children´s Medical Center, Tehran University of Medical Science, Tehran, , , Salehpour، Shadab نويسنده , , Shervin BADV، Reza نويسنده 6.Assistant Professor of Pediatric Neurology, Zanjan University of Medical Sciences, Zanjan, Iran , , Shakiba، Marjan نويسنده Assistant Professor of Pediatric Endocrinology, Shahid Beheshti University of Medical Sciences, Tehran, Iran , , ALAEE، Mohammad Reza نويسنده Associate Professor of Pediatric Endocrinology, Shahid Beheshti University of Medical Sciences , , FARSHIDI، Shahla نويسنده Nasle Omid Hope Foundation ,
Abstract :
Lysosomal storage disorders (LSDs) are relatively rare inborn errors of metabolism, resulting from the accumulation of substrates within the lysosomes. They represent a group of more than 40 distinct genetic
disorders. Most of these disorders are inherited in an autosomal recessive manner, except Fabry’s disease and mucopolysaccharidoses type II (MPS II) which are inherited in an X-linked recessive manner. Most disorders present clinically with multi-system involvement. Common clinical features involve bony dysplasia, hepatosplenomegaly, central nervous system dysfunction, haematological abnormalities, and coarse hair and facial features. There are many phenotypical similarities within the categories. Potential treatments for some of these disorders are available in the form of enzyme replacement therapy and bone marrow transplantation. PCR-sequencing methods were used for genetic investigation of 236 pediatric cases referred or diagnosed in our department over a period of 3 years from Nov 2009 to Nov 2012.
Detailed clinical data, including sex, age of onset of disease, age at diagnosis, mode of presentation, family history, consanguinity rates, and high-risk screening results were collected. Biochemical analysis was done in different laboratories in abroad.
