Carbohydrates

Question 0

Enzyme defect in glycolysis that causes

CHRONIC HEMOLYTIC ANEMIA

Answer 0

Pyruvate Kinase Deficiency

Question 1

Inhibits pyruvate dehydrogenase and binds to lipoic acid

competes with inorganic phosphate as substrate for glyceraldehyde 3-p- dehydrogenase

Answer 1

Arsenic Poisoning (Pentavalent)

Question 2

Low exercise capacity, particularly on high carbohydrate diet

Answer 2

Muscle Phosphofructokinase Deficiency

Question 3

X linked dominant
Congenital lactic acidosis
Increase lactate
Decease acetyl CoA

Answer 3

Pyruvate Dehydrogenase Deficiency

Question 4

Acquired PYRUVATE DEHYDROGENASE deficiency that leads to fatal pyruvic and lactic acidosis

Answer 4

Chronic alcoholism

Question 5

High amount of NADH is formed by what (2) enzymes

Answer 5

Alcohol dehydrogenase

Acetaldehyde dehydrogenase

Question 6

High amounts of NADH favor what (3) reactions

Answer 6

pyruvate to lactate
oaa to malate
DHAP to glycerol-3-p

Question 7

Glucose 6 phosphatase deficiency

Answer 7

Von gierke

Question 8

Acid maltase deficiency

Answer 8

Pompe

Question 9

Debranching enzyme defiency

Answer 9

Cori’s

Question 10

Skeletal muscle glycogen phosphorylase defiency

Answer 10

Mc Ardles

Question 11

Branching enzyme deficiency

Answer 11

Andersen’s

Question 12

Disease Findings:
Glycogen: liver and renal cell
Hypoglycemia, hepatomegaly, lactic acidosis

Answer 12

VON GIERKE

Question 13

Disease Findings:
Glycogen: lysosomes
Cardiomegaly and heart failure

Answer 13

Pompe

Question 14

Disease Findings:
Glycogen: muscle
Myoglobinuria but no lactic acidosis

Answer 14

Mc ardle’s

Question 15

Galactose 1-puridyltransferase deficience

Answer 15

Classic Galactosemia

Question 16

Child manifest with galactosemia and galactosuria only in early childhood

Answer 16

Galactokinase Deficiency

Question 17

Aldolase B deficiency

Answer 17

Fructose intolerance

Question 18

Child with fructose in blood and urine

Answer 18

Essential fructokinase

Question 19

Child manifest with severe hypoglycemia and lactic acidosis with proximal renal tube disorder resembling Fanconi Syndrome

Answer 19

Fructose intolerance ( Aldolase B Deficiency)

Question 20

Most common disease producing enzyme abnormality in humans

Answer 20

G6PD Deficiency

Question 21

Most common cause of G6PD

Answer 21

Infection