Fatty Acid Oxidation Disorders Flashcards Preview

SB_Metabolic Disorders (Pediatrics Royal College 2018) > Fatty Acid Oxidation Disorders > Flashcards

Flashcards in Fatty Acid Oxidation Disorders Deck (8)
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1
Q

What is the metabolism defect?

A

Fat

Defect in beta-oxidation of fatty acids

2
Q

What disorders fall in this category?

A
  1. MCAD
  2. LCAD
  3. VLCAD
3
Q

What is the classical presentation of fatty acid oxidation disorders?

A

Hypoketotic hypoglycemia

4
Q

What are other presentations of fatty acid oxidation disorders?

A
  1. lethargy, vomiting
  2. SIDS
  3. Reye syndrome
  4. LCAD or VLCAD: cardiomyopathy, rhabdomyolysis
5
Q

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

A

Plasma acylcarnitine

6
Q

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

A
  1. Newborn screen
  2. Hypoglycemia
  3. No or inappropriately low ketones
7
Q

What is the acute treatment of fatty acid oxidation disorders?

A
  1. D10NS IV

2. Early use of fluids to prevent hypoglycemia

8
Q

What is the chronic management of fatty acid oxidation disorders?

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