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Lysosomal & Glycogen Storage Diseases w/ Disorders of Sugar Metabolism

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Fabry Disease

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Terms in this set (62)

X-linked recessive; deficiency of alpha-galactosidase A

Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular, and renal disease

Accumulation of ceramide trihexoside results from the deficient enzyme in this disease

Notable for cardiovascular and renal disease that is more likely to be seen in boys

Gaucher Disease

AR; deficiency of beta-galactosidase (glucocerebrosidase)