GAUCHER DISEASE IS AN AUTOSOMAL RECESSIVE LYSOSOMAL STORAGE DISEASE THAT LEADS TO ACCUMULATION OF GLUCOCEREBROSIDE IN TISSUES DUE TO DEFECTIVE ACTIVITY OF ENZYME BETA GLUCOSIDASE WITH MUTATIONS IN GBA1 GENE. ALL PATIENTS HAVE NON-UNIFORM INFILTRATION OF BONE MARROW BY GAUCHER CELLS. TYPE 1 GAUCHER DISEASE IS THE COMMONEST & IS NON-NEURONOPATHIC WHEREAS TYPES 2 & 3 ARE NEURONOPATHIC. TYPES 1 & 3 GAUCHER DISEASE CAN BE EASILY TREATED BY ENZYME REPLACEMENT THERAPY. TYPE 2 DISEASE IS RARE, SEVERE LEADING TO DEATH BY 2 YEARS OF AGE.

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.