Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   FALL 2012 , Volume 6 , Number 4 (SUPPL 1); Page(s) 15 To 16.
 
Paper: 

DIAGNOSIS IN LYSOSOMAL DISORDERS

 
 
Author(s):  SHAKIBA MARJAN*
 
* MOFID CHILDREN HOSPITAL, SHARIATI AVE, TEHRAN, IRAN
 
Abstract: 

Lysosomal disorders are a heterogeneous group of Over 40 inherited disorders that individually are rare but as a group have an incidence of 1 in 10000 live births. LDs are caused by enzyme, enzyme activator, membrane transporter, or membrane protein defects that result in accumulation of complex macromolecules normally degraded in lysosomes. LDs classified to Mucopolysaccharidoses, disorders of lysosomal enzyme localization (Mucolipidoses), sphingolipidoses, sialic acid disorders, Oligosaccharidoses, Neuronal ceroid lipofuscinoses and a number of disease that are more difficult to classify in to specific category such as Wolman disease and cystinosis Ox/ostisis, pompe disease Danon disease.
Biochemical and genetic diagnosis of LSDs should be performed in specialized laboratories. Various clinical samples can be used for analysis, such as blood, urine, amniotic fluid, skin fibroblasts and tissue biopsies.

 
Keyword(s): LYSOSOMAL STORAGE DISEASE, URINARY OLIGOSACCHARIDES, URINARY GLYCOSAMINOGLYCANS, ENZYME ACTIVITIES
 
References: 
  • ندارد
 
  pdf-File tarjomyar Yearly Visit 55
 
Latest on Blog
Enter SID Blog