Pathophysiology 1) metabolic disease due to defect in beta-glucocerebrosidase (beta-glucosidase) Type 1 - 2) adult onset, chronic, highly variable … [Read more...]
Fabry’s Disease
Pathophysiology 1) type of lysosomal storage disease 2) cause is defect (multiple types possible) in alpha-galactosidase with altered metabolism of … [Read more...]
Tay-Sachs Disease
Pathophysiology 1) lysosomal storage disease 2) marked by abnormal buildup of gangliosides in lysosomes 3) occurs in infantile-, juvenile-, and … [Read more...]