Fatty Acid Oxidation Disorders

Question 1

What is the metabolism defect?

Answer 1

Fat

Defect in beta-oxidation of fatty acids

Question 2

What disorders fall in this category?

Answer 2

1. MCAD
2. LCAD
3. VLCAD

Question 3

What is the classical presentation of fatty acid oxidation disorders?

Answer 3

Hypoketotic hypoglycemia

Question 4

What are other presentations of fatty acid oxidation disorders?

Answer 4

1. lethargy, vomiting
2. SIDS
3. Reye syndrome
4. LCAD or VLCAD: cardiomyopathy, rhabdomyolysis

Question 5

What laboratory test should be done for fatty acid oxidation disorders?

Answer 5

Plasma acylcarnitine

Question 6

What other laboratory tests can be done for fatty acid oxidation disorders?

Answer 6

1. Newborn screen
2. Hypoglycemia
3. No or inappropriately low ketones

Question 7

What is the acute treatment of fatty acid oxidation disorders?

Answer 7

1. D10NS IV

2. Early use of fluids to prevent hypoglycemia

Question 8

What is the chronic management of fatty acid oxidation disorders?

Answer 8

1. Low fat diet
2. Avoid prolonged fasts
3. Nightime feedings when sick
4. Carnitine
5. Echo for LCAD