Disorders of Fatty Acid Degradation

Question 1

Results in the inability to oxidize medium length fatty acids

Answer 1

Medium-chain acyl CoA Dehydrogenase Deficiency (MCADD)

Question 2

What are the signs and symptoms of MCADD?

Answer 2

Hypoketotic, hypoglycemia, vomiting, and lethargy

Question 3

Signs/Symptoms: hypoketotic hypoglycemia, vomiting, and lethargy usually in an infant/child following some stressor (cold/ decreased food intake etc.)

Answer 3

MCADD

Question 4

The problem with MCADD is that the stressed state will lead to depletion of glucose stores, but we will not be able to compensate by metabolizing

Answer 4

Medium-chain FAs

Question 5

How can we treat MCADD?

Answer 5

Increase carb and protein intake and decrease fat

Question 6

Patients with MCADD should avoid

Answer 6

Prolonged Fasting

Question 7

Caused by the decreased ability to utilize long chain fatty acids as a fuel source

Answer 7

Carnitine deficiency

Question 8

What are the signs and symptoms of carnitine deficiency?

Answer 8

Muscle aches and fatigue following exercise

Question 9

What will the blood of someone with carnitine deficiency show?

Answer 9

Increased FFA, hypoketotic, and hypoglycemia

Question 10

Permissible in patients with carnitine deficiency

Answer 10

Consumption of medium-chain fatty acids

Question 11

Autosomal recessive disorders of enzymes in the pathway that converts propionyl CoA to succinyl CoA in pathway of odd chain FA metabolism

Answer 11

Methylmalonic and propionic Acidemia

Question 12

Catalyzes conversion of proprionyl CoA to methylmalonyl CoA

Answer 12

Propionyl CoA carboxylase

Question 13

Propionyl CoA carboxylase requires the coenzyme

Answer 13

Biotin

Question 14

Catalyzes conversion of methylmalonyl CoA to succinyl CoA

Answer 14

Methylmalonyl CoA Mutase

Question 15

Propionyl CoA carboxylase deficiency causes

Answer 15

Propionic acidemia

Question 16

Methylmalonyl CoA mutase deficiency causes

Answer 16

Methylmalonic acidemia

Question 17

Methylmalonyl CoA mutase requires the cofactor

Answer 17

B12

Question 18

Has the signs and symptoms of ketosis, metabolic acidosis, vomiting, lethargy, poor feeding, neutropenia, and developmental/neurological complications

Answer 18

Methylmalonic acidemia and Propionic acidemia

Question 19

What do we see in the blood in propionic acidemia?

Answer 19

Increased levels of propionoic acid in the blood

Question 20

What do we see in the blood in methylmalonic acidemia?

Answer 20

Increased blood concentration of propionic acid AND methylmalonic acid

Question 21

How do we treat propionyl CoA and Methylmalonyl CoA mutase deficiencies?

Answer 21

Low protein diet, restrict odd-chain FAs, and carnitine supplementation

Question 22

We would supplement with carnitine to improve

Answer 22

B-oxidation of fatty acids