lysosomal storage disorders Flashcards
x-linked recessive lysosomal storage disorder
fabry and hunter
inheritance pattern of all lysosomal storage disorders except fabry and hunter
autosomal recessive
most common sphingolipidosis
gaucher
peripheral neuropathy of hands/feet, angiokerotomas, cardiovascular/renal disease
fabry
hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
gaucher
progressive neurogeneration, hepatosplenomegaly, foam cell, cherry red spot of macula
neimann pick
progressive neurodegeneration, developmental delay, cherry red spot, lysosomes with onion skin, no hepatosplenomegaly
tay sachs
peripheral neuropathy, developmental delay, optic atrophhy, globoid cells
krabbe
central and peripheral demyelination with ataxia, dementia
metachromatic leukodystrophy
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
hurler
fabry deficient enzyme
alpha galactosidase A
gaucher deficienct enzyme
glucocerebrosidase AKA beta-glucosidase
neimann pick disease deficienct enzyme
sphingomyelinase
tay sachs deficient enzyme
hexosaminidase A
krabbe deficient enzyme
galactocerebrosidase
