Biochem

Question 1

Glycogen Storage Disease:
Most common
Enzyme defect: Glucose -6 - phospatase
Hepatomegaly, Kidney failure, hyperuricemia, lactic acidosis, hypoglycemia

Answer 1

von Gierke’s

Type IA

Question 2

Glycogen Storage Disease:
Enzyme defect: Lysosomal Acid Maltase
Infant Death by Age 2
Cardiac

Answer 2

Pompe’s (Type II)

Question 3

Glycogen Storage Disease:
Enzyme defect: debranching enzyme
Short branch chain accumulation
hepatomegaly, myopathy

Answer 3

Cori’s

Type IIIA

Question 4

Glycogen Storage Disease:
Enzyme defect: Branching enzyme
abnormal long unbranched chain; liver cirrhosis

Answer 4

Andersen’s

Type IV

Question 5

Glycogen Storage Disease:
Enzyme defect: Muscle Phosphorylase
exercise induced cramps, myoglobinuria

Answer 5

Mc Ardle’s (Type V)

Question 6

Glycogen Storage Disease:
Enzyme defect: Liver phsophorylase
hepatomegaly

Answer 6

Hers’s

Type VI

Question 7

Enzymes involved in ____:
hexokinase
PFK
Pyruvate kinase

Answer 7

Glycolysis

Question 8

Enzymes involved in \_\_\_\_:
pyruvate carboxylase
PEP carboxykinase
F1-6 biphosphatase
G6Phosphatase

Answer 8

Gluconeogenesis

Question 9

Omega 3 fatty acid: _____

Omega 6 fatty acid:_____

Answer 9

Omega 3: LinoLENIC acid

Omega 6: Arachidonic & LinoLEIC acid

Question 10

Deficiency of branched chan alpha keto acid dehydrogenase; accumulation of VIL

Answer 10

MSUD
Leucine - neuro sx
Isoleucine - maple urine

Question 11

deficiency of Uroporphyrinogen decarboxylase
overproduction of uroporphyrinogen III
reddish pigment in liver and plasma

Answer 11

Porphyria Cutanea Tarda

Question 12

cofactor for transketolase, pyruvate dehydrogenase, alpha ketoglutarate dehydrogenase

Answer 12

Thiamine (B1)

Question 13

cofactor - acetyl CoA carboxylase

Answer 13

Biotin (B7)

converts acetyl COA to Malonyl COA

Question 14

What connects Urea to TCA cycle?

TCA to Urea Cycle?

Answer 14

Fumarate

Aspartate