Enzyme Deficiency

Question 0

Gaucher’s deficient enzyme

Answer 0

Glucocerebrosidase

Question 1

Fabry’s deficient enzyme

Answer 1

a-galactosidase A

Question 2

Niemann-Pick’s disease deficient enzyme

Answer 2

Sphingomyelinase

Question 3

Krabbe’s deficient enzyme

Answer 3

Galactocerebrosidase

Question 4

Tay-Sachs deficient enzyme

Answer 4

Hexosaminidase

Question 5

Metachromic leukodystrophy deficient enzyme

Answer 5

Arylsulfatase A

Question 6

Hurler’s deficient enzyme

Answer 6

a-L-iduronidase

Question 7

Hunter’s deficient enzyme

Answer 7

Iduronate sulfatase

Question 8

G6PD deficient enzyme

Answer 8

Glucose 6-phosphate dehydrogenase deficiency

Question 9

Sorbitol to fructose

Answer 9

Sorbitol dehydrogenase

Question 10

Glucose to sorbitol

Answer 10

Aldose reductase

Question 11

Chronic granulomatous disease deficient enzyme

Answer 11

NADPH oxidase

Question 12

Jamaican vomiting disease inactivates

Answer 12

Medium and short chain acyl-CoA dehydrogenase
Leads to hypoglycemia
Unripe fruit of the Akeem tree has hypoglycin

Question 13

Refsum’s

Answer 13

Accumulation of phytanic acid blocks b-oxidation

Causes improper myelinization

Question 14

Zellwegger is a cerebrohepatorenal syndrome with a rare inherited absence of

Answer 14

Peroxisomes

Question 15

X-linked adrenoleukodystrophy has s/sx of apathy behavioral change, visual loss, spasticity, ataxia due to

Answer 15

Peroxisomal activation of VLCFA

Question 16

Galactokinase deficiency

Answer 16

Galactokinase is lacking but is compensated for by hexokinase thus presents with milder symptoms

Question 17

Classic galactosemia deficient enzyme

Answer 17

Galactose 1-P uridyltransferase
No alternate enzyme available, more severe symptoms
Accumulation of galactitol leads to cataracts, MR, HSM

Question 18

Essential fructosuria

Answer 18

Defect in fructokinase

Benign is compensated for by hexokinase

Question 19

Fructose intolerance

Answer 19

Deficient in aldolase B

Will not appear if purely breastfed