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30 Cards in this Set

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fabry's dz: inheritance
XR
fabry's dz: deficient enzyme and accumulation
alpha-galactosidase A
ceramide trihexoside
fabry's dz: clinical
peripheral neuropathy of hands and feet
angiokeratomas
CV/renal dz
gaucher's dz: inheritance
AR
gaucher's dz: deficient enzyme and accumulation
glucocerebrosidase
glucocerebroside
gaucher's dz: clinical
crumpled tissue paper
type 1: erosion of femoral head, hepatosplenomegaly, mild anemia; gaucher cells in liver, spleen, lymph nodes, bone marrow
type 2: infantile; severe CNS involvement, seizures, mental deterioration, death by 1 yr
type 3: juvenile, less severe than type 2
neimann-pick dz: inheritance
AR
neimann-pick dz: deficient enzyme and accumulation
sphingomyelinase
sphingomyelin
neimann-pick dz: clinical
cherry-red spot on macula
hepatosplenomegaly
anemia
death by 3 yrs
FOAMY HISTIOCYTES in liver, spleen, lymph nodes, skin
tay-sachs dz: inheritance
AR
tay-sachs dz: deficient enzyme and accumulation
hexosaminidase A
GM2
tay-sachs dz: clinical
cherry-red spot
mental/motor deterioration
blindness
death before 4 yrs
krabbe's dz: inheritance
AR
krabbe's dz: enzyme defiency and accumulation
beta-galactosidase
beta-galactoside
krabbe's dz: clinical
peripheral neuropathy
developmental delay
opptic atrophy
metachromatic leucodustrophy: inheritance
AR
metachromatic leucodustrophy: enzyme defiency and accumulation
arylsulfatase A
cerebroside sulfate
metachromatic leucodustrophy: clinical
demyelination of CNS and pns
ataxia
dementia
hurler's syndrome: inheritance
AR
hurler's syndrome: enzyme deficient and accumulation
alpha-L-iduronidase
heparan sulfate and dermatan sulfate
hurler's syndrome: clinical presentaion
BALLOON CELLS in heart, liver, brain
gargoylism
cardiomegaly
corneal clouding
airway obstruction
MR
hunter's syndrome: inheritance
XR
hunter's syndrome: enzyme deficiency and accumulation
iduronidase sulfate
heparan sulfate and dermatan sulfate
hunter's syndrome: clinical presentation
hepatosplenomegaly
aggressive behavior
no corneal clouding
glycogen storage dzs (names)
Very Poor Carbohydrate Metabolism
I: von gierke's
II: pompe's
III: cori's
V: McArdle's
von gierke's dz
glucose 6 phosphatase deficiency
liver becomes muscle
lactic acid in liver
hepatomegaly
increased glycogen in liver
convulsions and severe hypoglycemia
pompe's dz
deficiency in alpha-1,4 glucosidase
cardiomegaly
death from cardiorespiratory failure by 3 yo
cori's dz
deficiency in alpha 1,6 glucosidase
milder form of type 1, but with normal lactose levels
McArdle's dz
glycogen phosphorylase deficiency
increased glycogen in muscle that can't be broken down
painful muscle cramps
myoglobinuria with strenuous exercise
PKU
can't convert phe --> tyr b/c of phenylalanine hydroxylase deficiency (or tetrahydrobiopterin cofactor defic)
--> musty body odor, light colored skin, MR
low phenylalanine diet, with high tyrosine