NIEMANN PICK DISEASE QUANTITATIVE, BLOOD

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NIEMANN PICK DISEASE QUANTITATIVE, BLOOD

228 Ratings

Rs 2,891 Rs 2,190

24 % OFF

NIEMANN-PICK DISEASE IS AN AUTOSOMAL RECESSIVE LYSOSOMAL STORAGE DISEASE CAUSED BY DEFICIENCY OF ENZYME SPHINGOMYELINASE. IT IS OF 2 TYPES - TYPE A DISEASE MANIFESTS IN THE FIRST 6 MONTHS OF LIFE WITH RAPID PROGRESSIVE CNS DETERIORATION, HEPATOSPLENOMEGALY & FAILURE TO THRIVE. TYPE B DISEASE MANIFESTS LATER IN LIFE WITH PROGRESSIVE HEPATOSPLENOMEGALY EVENTUALLY LEADING TO CIRRHOSIS. MUTATIONS HAVE BEEN DETECTED IN NPC1 OR NPC2 GENE.

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