Name that enzyme! Flashcards Preview

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Flashcards in Name that enzyme! Deck (27):
1

Orotic aciduria

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)

2

Lesch-Nyhan Syndrome

HGPRT

3

Chronic Granulomatous Disease

NADPH oxidase

4

Essential Fructosuria

Fructokinase

5

Fructose Intolerance

Aldolase B

6

Galactokinase deficiency

Galactokinase

7

Classic galactosemia

Galactose-1-phosphate uridyltransferase

8

PKU

Phenylalanine hydroxylase OR decreased activity of tetrahydrobiopterin

9

Alkaptonuria

Homogentisic acid oxidase

10

Albinism

Tyrosinase OR defective tyrosine transporters

11

Homocysteinuria

Cystathionine synthase deficiency

OR

decreased affinity of cystathionine synthase for pyridoxal phosphate

OR

Homocysteine methyltransferase deficiency

12

Maple Syrup Urine Disease

alpha-ketoacid dehydrogenase

13

Hartnup disease

Defective neutral amino acid transporter

14

Von Gierke's Disease

Glucose-6-phosphatase

15

Pompe's Disease

Acid maltase
(Lysosomal alpha-1,4-glucosidase)

16

Cori's Disease

Debranching enzyme
(alpha-1,6-glucosidase)

17

McArdle's Disease

Myophosphorylase
(skeletal muscle glycogen phosphorylase)

18

Hyperchylomicronemia

Lipoprotein lipase

OR

Altered apolipoprotein C-II

19

Fabry's Disease

alpha-galactosidase A

20

Gaucher's Disease

Glucocerebrosidase

21

Niemann-Pick Disease

Sphingomyelinase

22

Tay-Sachs Disease

Hexaminidase A

23

Krabbe Disease

Beta-galactocerebrosidase

24

Metachromatic leukodystrophy

Arylsulfatase A

25

Hurler's Syndrome

Alpha-L-iduronidase

26

Hunter's Syndrome

Iduronate sulfatase

27

Compare CPS I & CPS II

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