Carbohydrate Metabolism Defects

Question 1

Primary storage molecules in animals

Answer 1

Glucose

Question 2

Primary storage molecule in plants

Answer 2

Starch

Question 3

3 errors of galactose metabolism

Answer 3

Galactokinase Deficiency
GALT deficiency
GALE deficiency

Question 4

3 disorders of fructose metabolism

Answer 4

Fructokinase deficiency
Fructosemis
Fructose 1,6 bisphosphate deficiency

Question 5

3 types of glycogen storage disease

Answer 5

Von Girke
Pompe
McArdle

Question 6

Von Girke inheritance and gene

Answer 6

AR, GSD1

Question 7

Von Girke enzyme deficiency

Answer 7

Glucose-6-phosphatase

Question 8

Pompe disease inheritance and gene

Answer 8

AR, GAA

Question 9

Pompe disease enzyme deficiency

Answer 9

Lysosomal acid alpha glucosidase deficiency

Question 10

McArdle inheritance and gene

Answer 10

AR, PYGM

Question 11

McArdle enzyme deficiency

Answer 11

Muscle myophosphorylase

Question 12

GLUT1 deficiency inheritance and gene

Answer 12

AD, SLC2A1

Question 13

Untreated Galactosemia

Answer 13

Lethargy, poor feeding, vomiting 
Liver failure
Renal dysfunction
Cataracts
E coi sepsis

Question 14

Prenatal dx of Galactossemia

Answer 14

Molecular analysis of familial mutation

Question 15

Untreated Fructokinase Deficiency

Answer 15

Benign

Question 16

Untreated Fructosemia

Answer 16

Vomiting, lethargy, irritability, seizures
Liver and kidney dusfucntion, hypoglycemia
Liver failure

Question 17

Untreated Fructose 1,6 Bisphosphatase Deficiency

Answer 17

Life threatening episodes of:

Hypoglycemia, lactic acidosis, hyperventilation

Question 18

Untreated Von Gierke

Answer 18

Hypoglycemia and lactic acidosis in neonatal period

3-4 months of age: heptomegaly, hypoglycemia, hyperuricemia, hyperlipidemia

Question 19

Untreated Pompe Disease

Answer 19

Muscle and organ enlargement

Progressive muscle breakdown and weakness

Question 20

Untreated McArdle Disease

Answer 20

Exercise-induced muscle cramps and pain
Recurrent myoglobinurea can lead to renal failure
Poor exercise capacity, fatigue, poor stamina

Question 21

Untreated GLUT1 deficiency

Answer 21

Seizures
Dev delay and acquired microcephaly
Complex movement disorders and cognitive impairment
Symptoms increase with fasting/fever/infection