Lysosomal Storage Diseases and Glycogen Storage Diseases Flashcards
Fabry’s disease
Enzyme: alpha galactosidase A
Accumulated: ceramide trihexoside
Sx: peripheral neuropathy of hands/feet, angiokeratomas, CV/renal dx
Gaucher’s disease
Most common
Enzyme: glucocerebrosidase
Accumulated: glucocerebrosidase
Sx: HSM, aseptic necrosis of femur, bone crises (crumpled macro)
Niemann-Pick Disease
Enzyme: sphingomyelinase
Accumulated: sphingomyelin
Sx: progressive neurodegeneration, HSM, cherry-red spot on macula, foam cells
Tay Sachs disease
Enzyme: hexosaminidase A
Accumulated: GM2 ganglioside
Sx: progressive neurodegeneration, developmental delay, cherry-red spot on macula, onion skin lysosomes, no HSM
Krabbe’s disease
Enzyme: galactocerebrosidase
Accumulated: galactocerebrosides
Sx: peripheral neuropahty, developmental delay, optic atrophy, globoid cells
Metachromatic leukodystrophy
Enzyme: arylsulfatase A
Accumulated: cerebroside sulfate
Sx: central and peripheral demyelination with ataxia, dementia
Hurler’s syndrome
Enzyme: alpha-L-iduronidase
Accumulated: heparan sulfate, dermatan sulfate
Sx: developmental delay, gargoylism, airway obstruction, corneal clouding, HSM
Hunter’s syndrome
Enzyme: iduronate sulfatase
Accumulated: heparan sulfate, dermatan
Sx: mild Hurler’s and aggressive behavior, no corneal clouding
Von Gierke’s Dx (type 1)
Enzyme: glucose-6-phosphatase
Sx: fasting hypoglycemia, increased glycogen in liver, hepatomegaly
Pompe’s disease (type 2)
Enzyme: lysosomal alpha-1,4-glucosidase
Sx: cardiomegaly, systemic finding and early death
Cori’s disease (type 3)
Enzyme: alpha-1,6-glucosidase
Sx: milder, normal blood lactate levels
McArdle’s disease (type 4)
Enzyme: glycogen phosphorylase
Sx: increased glycogen in muscle, painful muscle cramps, myoglobinuria with strenuous exercise
