Name that enzyme!

Question 1

Orotic aciduria

Answer 1

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)

Question 2

Lesch-Nyhan Syndrome

Answer 2

HGPRT

Question 3

Chronic Granulomatous Disease

Answer 3

NADPH oxidase

Question 4

Essential Fructosuria

Answer 4

Fructokinase

Question 5

Fructose Intolerance

Answer 5

Aldolase B

Question 6

Galactokinase deficiency

Answer 6

Galactokinase

Question 7

Classic galactosemia

Answer 7

Galactose-1-phosphate uridyltransferase

Question 8

PKU

Answer 8

Phenylalanine hydroxylase OR decreased activity of tetrahydrobiopterin

Question 9

Alkaptonuria

Answer 9

Homogentisic acid oxidase

Question 10

Albinism

Answer 10

Tyrosinase OR defective tyrosine transporters

Question 11

Homocysteinuria

Answer 11

Cystathionine synthase deficiency

OR

decreased affinity of cystathionine synthase for pyridoxal phosphate

OR

Homocysteine methyltransferase deficiency

Question 12

Maple Syrup Urine Disease

Answer 12

alpha-ketoacid dehydrogenase

Question 13

Hartnup disease

Answer 13

Defective neutral amino acid transporter

Question 14

Von Gierke’s Disease

Answer 14

Glucose-6-phosphatase

Question 15

Pompe’s Disease

Answer 15

Acid maltase

Lysosomal alpha-1,4-glucosidase

Question 16

Cori’s Disease

Answer 16

Debranching enzyme

alpha-1,6-glucosidase

Question 17

McArdle’s Disease

Answer 17

Myophosphorylase

skeletal muscle glycogen phosphorylase

Question 18

Hyperchylomicronemia

Answer 18

Lipoprotein lipase

OR

Altered apolipoprotein C-II

Question 19

Fabry’s Disease

Answer 19

alpha-galactosidase A

Question 20

Gaucher’s Disease

Answer 20

Glucocerebrosidase

Question 21

Niemann-Pick Disease

Answer 21

Sphingomyelinase

Question 22

Tay-Sachs Disease

Answer 22

Hexaminidase A

Question 23

Krabbe Disease

Answer 23

Beta-galactocerebrosidase

Question 24

Metachromatic leukodystrophy

Answer 24

Arylsulfatase A

Question 25

Hurler's Syndrome

Answer 25

Alpha-L-iduronidase

Question 26

Hunter's Syndrome

Answer 26

Iduronate sulfatase

Question 27

Compare CPS I & CPS II

Answer 27

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