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30 Cards in this Set
- Front
- Back
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fabry's dz: inheritance
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XR
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fabry's dz: deficient enzyme and accumulation
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alpha-galactosidase A
ceramide trihexoside |
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fabry's dz: clinical
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peripheral neuropathy of hands and feet
angiokeratomas CV/renal dz |
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gaucher's dz: inheritance
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AR
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gaucher's dz: deficient enzyme and accumulation
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glucocerebrosidase
glucocerebroside |
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gaucher's dz: clinical
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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 |
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neimann-pick dz: inheritance
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AR
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neimann-pick dz: deficient enzyme and accumulation
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sphingomyelinase
sphingomyelin |
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neimann-pick dz: clinical
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cherry-red spot on macula
hepatosplenomegaly anemia death by 3 yrs FOAMY HISTIOCYTES in liver, spleen, lymph nodes, skin |
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tay-sachs dz: inheritance
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AR
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tay-sachs dz: deficient enzyme and accumulation
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hexosaminidase A
GM2 |
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tay-sachs dz: clinical
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cherry-red spot
mental/motor deterioration blindness death before 4 yrs |
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krabbe's dz: inheritance
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AR
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krabbe's dz: enzyme defiency and accumulation
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beta-galactosidase
beta-galactoside |
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krabbe's dz: clinical
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peripheral neuropathy
developmental delay opptic atrophy |
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metachromatic leucodustrophy: inheritance
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AR
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metachromatic leucodustrophy: enzyme defiency and accumulation
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arylsulfatase A
cerebroside sulfate |
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metachromatic leucodustrophy: clinical
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demyelination of CNS and pns
ataxia dementia |
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hurler's syndrome: inheritance
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AR
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hurler's syndrome: enzyme deficient and accumulation
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alpha-L-iduronidase
heparan sulfate and dermatan sulfate |
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hurler's syndrome: clinical presentaion
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BALLOON CELLS in heart, liver, brain
gargoylism cardiomegaly corneal clouding airway obstruction MR |
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hunter's syndrome: inheritance
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XR
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hunter's syndrome: enzyme deficiency and accumulation
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iduronidase sulfate
heparan sulfate and dermatan sulfate |
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hunter's syndrome: clinical presentation
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hepatosplenomegaly
aggressive behavior no corneal clouding |
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glycogen storage dzs (names)
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Very Poor Carbohydrate Metabolism
I: von gierke's II: pompe's III: cori's V: McArdle's |
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von gierke's dz
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glucose 6 phosphatase deficiency
liver becomes muscle lactic acid in liver hepatomegaly increased glycogen in liver convulsions and severe hypoglycemia |
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pompe's dz
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deficiency in alpha-1,4 glucosidase
cardiomegaly death from cardiorespiratory failure by 3 yo |
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cori's dz
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deficiency in alpha 1,6 glucosidase
milder form of type 1, but with normal lactose levels |
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McArdle's dz
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glycogen phosphorylase deficiency
increased glycogen in muscle that can't be broken down painful muscle cramps myoglobinuria with strenuous exercise |
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PKU
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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 |
