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Step One!!!! Kat's kontributions > Name that enzyme! > Flashcards

Name that enzyme! Flashcards

1
Q

Orotic aciduria

A

Orotic acid phosphoribosyltransferase OR orotidine 5’-phosphate decarboxylase

Presents w/ megaloblastic anemia, elevated orotic acid in urine, failure to thrive. NO HYPERAMMONEMIA (in contrast w/ OTC deficiency)

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2
Q

Lesch-Nyhan Syndrome

A

HGPRT

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3
Q

Chronic Granulomatous Disease

A

NADPH oxidase

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4
Q

Essential Fructosuria

A

Fructokinase

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5
Q

Fructose Intolerance

A

Aldolase B

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6
Q

Galactokinase deficiency

A

Galactokinase

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7
Q

Classic galactosemia

A

Galactose-1-phosphate uridyltransferase

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8
Q

PKU

A

Phenylalanine hydroxylase OR decreased activity of tetrahydrobiopterin

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9
Q

Alkaptonuria

A

Homogentisic acid oxidase

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10
Q

Albinism

A

Tyrosinase OR defective tyrosine transporters

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11
Q

Homocysteinuria

A

Cystathionine synthase deficiency

OR

decreased affinity of cystathionine synthase for pyridoxal phosphate

OR

Homocysteine methyltransferase deficiency

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12
Q

Maple Syrup Urine Disease

A

alpha-ketoacid dehydrogenase

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13
Q

Hartnup disease

A

Defective neutral amino acid transporter

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14
Q

Von Gierke’s Disease

A

Glucose-6-phosphatase

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15
Q

Pompe’s Disease

A

Acid maltase

Lysosomal alpha-1,4-glucosidase

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16
Q

Cori’s Disease

A

Debranching enzyme

alpha-1,6-glucosidase

17
Q

McArdle’s Disease

A

Myophosphorylase

skeletal muscle glycogen phosphorylase

18
Q

Hyperchylomicronemia

A

Lipoprotein lipase

OR

Altered apolipoprotein C-II

19
Q

Fabry’s Disease

A

alpha-galactosidase A

20
Q

Gaucher’s Disease

A

Glucocerebrosidase

21
Q

Niemann-Pick Disease

A

Sphingomyelinase

22
Q

Tay-Sachs Disease

A

Hexaminidase A

23
Q

Krabbe Disease

A

Beta-galactocerebrosidase

24
Q

Metachromatic leukodystrophy

A

Arylsulfatase A

25
Q

Hurler’s Syndrome

A

Alpha-L-iduronidase

26
Q

Hunter’s Syndrome

A

Iduronate sulfatase

27
Q

Compare CPS I & CPS II

A

CPS I found in mitochondria; involved in urea cycle; uses ammonia as a nitrogen source

CPS II is found in cytosol; involved in pyrimadine synthesis; uses glutamine as a nitrogen source

Step One!!!! Kat's kontributions (28 decks)

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