Enzyme deficiencies

Question 1

NADPH Oxidase

Answer 1

Chronic Granulomatous Disease

Question 2

Aldolase B

Answer 2

Fructose Intolerance (AR)

Question 3

Galactokinase

Answer 3

Galactokinase deficiency (AR)

Question 4

Fructokinase

Answer 4

Essential Fructosuria (AR)

Question 5

Galactose-1-phosphate Uridyltransferase

Answer 5

Classic galactosemia (AR)

Question 6

Sorbitol dehydrogenase

Answer 6

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

Question 7

Lactase

Answer 7

Lactase deficiency

Question 8

phenylalanine hydroxylase

Answer 8

Phenylketonuria (PKU)

Question 9

homogentisic acid oxidase

Answer 9

Alkaptonuria

Question 10

Tyrosinase

Answer 10

Albinism

Question 11

cystathionine synthase

Answer 11

Homocystinuria

Question 12

alpha-ketoacid dehydrogenase

Answer 12

Maple Syrup Urine Disease

Question 13

homocysteine methyltransferase

Answer 13

Homocystinuria

Question 14

glycogen phosphorylase

Answer 14

McArdle’s

Question 15

debranching enzyme

Answer 15

Cori’s

Question 16

lysosomal alpha-1,4-glucosidase

Answer 16

Pompe’s

Question 17

glucose-6-phospohatase

Answer 17

von Gierke’s

Question 18

alpha-1,6-glucosidase

Answer 18

Cori’s

Question 19

lipoprotein lipase

Answer 19

Hyperchylomicronemia

Question 20

alpha-galactosidase A

Answer 20

Fabry’s

Question 21

beta-glucocerebrosidase

Answer 21

Gaucher’s

Question 22

sphingomyelinase

Answer 22

Niemann-Pick

Question 23

Hexosaminidase A

Answer 23

Tay-Sachs

Question 24

Galactocerebrosidase

Answer 24

Krabbe’s

Question 25

Arylsulfatase A

Answer 25

Metachromatic leukodystrophy

Question 26

alpha-L-iduronidase

Answer 26

Hurler’s

Question 27

iduronate sulfatase

Answer 27

Hunter’s