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High Yield > Enzyme deficiencies > Flashcards

Enzyme deficiencies Flashcards

1
Q

NADPH Oxidase

A

Chronic Granulomatous Disease

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2
Q

Aldolase B

A

Fructose Intolerance (AR)

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3
Q

Galactokinase

A

Galactokinase deficiency (AR)

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4
Q

Fructokinase

A

Essential Fructosuria (AR)

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5
Q

Galactose-1-phosphate Uridyltransferase

A

Classic galactosemia (AR)

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6
Q

Sorbitol dehydrogenase

A

Lacking in all people in Schwann cells, lens, retina, kidneys, –> peripheral neuropathy, cateracts, retinopathy, esp in diabetics

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7
Q

Lactase

A

Lactase deficiency

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8
Q

phenylalanine hydroxylase

A

Phenylketonuria (PKU)

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9
Q

homogentisic acid oxidase

A

Alkaptonuria

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10
Q

Tyrosinase

A

Albinism

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11
Q

cystathionine synthase

A

Homocystinuria

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12
Q

alpha-ketoacid dehydrogenase

A

Maple Syrup Urine Disease

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13
Q

homocysteine methyltransferase

A

Homocystinuria

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14
Q

glycogen phosphorylase

A

McArdle’s

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15
Q

debranching enzyme

A

Cori’s

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16
Q

lysosomal alpha-1,4-glucosidase

17
Q

glucose-6-phospohatase

A

von Gierke’s

18
Q

alpha-1,6-glucosidase

19
Q

lipoprotein lipase

A

Hyperchylomicronemia

20
Q

alpha-galactosidase A

21
Q

beta-glucocerebrosidase

A

Gaucher’s

22
Q

sphingomyelinase

A

Niemann-Pick

23
Q

Hexosaminidase A

24
Q

Galactocerebrosidase

A

Krabbe’s

25
Q

Arylsulfatase A

A

Metachromatic leukodystrophy

26
Q

alpha-L-iduronidase

A

Hurler’s

27
Q

iduronate sulfatase

A

Hunter’s

High Yield (34 decks)

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