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Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   FALL 2012 , Volume 6 , Number 4 (SUPPL 1); Page(s) 22 To 22.
 
Paper: 

LYSOSOMAL STORAGE DISEASE IN IRAN (REPORT OF MOLECULAR STUDY)

 
 
Author(s):  HOUSHMAND MASSOUD*, TONEKABONI SEYED HASSAN, KARIMZADEH PARVANEH, ARYANI OMID, ASHRAFI MAHMOUDREZA, SALEHPOUR SHADAB, BADV SHERVIN, SHAKIBA MARJAN, ALAEE MOHAMMAD REZA, FARSHIDI SHAHLA
 
* DEPARTMENT OF MEDICAL GENETIC, NATIONAL INSTITUTE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY, TEHRAN, IRAN
 
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 phenoltypical 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.

 
Keyword(s): GENETIC, LYSOSOMAL STORAGE DISEASE, CHILD, IRAN
 
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