Lysosomal storage diseases Flashcards

1
Q

Galactocerebrosidase deficiency, optic atrophy, myelin sheath involvement

A

Krabbe dz

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2
Q

Buildup of Galactocerebroside due to a deficiency in what enzyme?

A

Galactocerebrosidase (Krabbe dz)

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3
Q

Alpha-Galactosidase A deficiency, Renal failure, Angiokeratomas

A

Fabry dz

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4
Q

Buildup of Ceramide trihexoside is due to a deficiency in what enzyme?

A

Alpha-Galactosidase A (Fabry dz)

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5
Q

Alpha-L-Iduronidase deficiency, dwarfism, corneal clouding

A

Hurler syndrome

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6
Q

Buildup of Heparan sulfate, dermatan sulfate due to an AR deficiency in what enzyme?

A

Alpha-L-Iduronidase (Hurler syndrome)

***Hunter syndrome is XLR

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7
Q

Buildup of Heparan sulfate, Dermatan sulfate due to an X linked Recessive mutation in which enzyme?

A

Iduronate sulfatase (Hunter syndrome)

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8
Q

Glucocerobrosidase deficiency, Macrophages with cytoplasmic fibrils, thrombocytopenia

A

Gaucher dz

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9
Q

Buildup of glucocerebroside due to deficiency in what enzyme?

A

Glucocerebrosidase (beta-glucosidase)

-Gaucher dz

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10
Q

Hexosaminidase A deficiency, Cherry red spot on macula, No hepatosplenomegaly

A

Tay-Sachs dz

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11
Q

Buildup of GM2 ganglioside due to deficiency in what enzyme?

A

Hexosaminidase A (Tay-Sachs dz)

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12
Q

Iduronate sulfatase deficiency, Aggressive behavior, no corneal clouding

A

Hunter syndrome (XLR)

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13
Q

Hunter syndrome results in the buildup of what substrates?

A

Heparan sulfate, Dermatan sulfate

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14
Q

Deficiency of Arylsulfatase A, progressive vision loss and dementia, similar to Krabbe

A

Metachromatic Leukodystrophy

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15
Q

Buildup of cerebroside sulfate in which dz?

A

Metachromatic Leukodystrophy (Arylsulfatase A deficiency)

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16
Q

Sphingomyelinase deficiency, Cherry red spot on macula, foam cells

A

Niemann Pick Dz

17
Q

Buildup of sphingomyelin in which dz?

A

Niemann Pick Dz (def of Sphingomyelinase)