5 Questions
Which of the following is NOT a cause of impaired fatty acid oxidation?
Excessive carbohydrate intake
What is a potential complication of repeated hypoglycemia due to impaired fatty acid oxidation?
Cardiomyopathy
Which of the following treatments would likely be prescribed for a patient with carnitine deficiency?
Carnitine supplement
What is the recommended dietary intervention for a patient with impaired fatty acid oxidation?
Frequent high carbohydrate diet
Which enzyme deficiency is related to beta-oxidation impairment?
Enzymes of fatty acid oxidase
Study Notes
Clinical Aspects of Fatty Acid Oxidation
- Impaired fatty acid oxidation is often caused by inherited deficiencies or absences of:
- Carnitine
- CPT-1
- CPT-2
- Enzymes of beta-oxidation (fatty acid oxidase enzymes)
Clinical Presentations
- Repeated fainting attacks in children due to hypoglycemia resulting from inappropriate glucose consumption
- Hypoglycemia is a significant symptom to be aware of
Complications
- Repeated hypoglycemia leads to accumulation of free fatty acids in body cells, affecting multiple organs
- Organs affected by free fatty acid accumulation include:
- Heart, leading to cardiomyopathy
- Liver, leading to liver failure
- Early diagnosis and treatment are crucial to avoid these complications
Diagnosis
- Neonatal screening is essential for early detection and treatment
Treatment
- Frequent high-carbohydrate diet is recommended
- Low-fat diet is essential
- Carnitine supplements may be necessary in cases of carnitine deficiency
This quiz covers the clinical aspects of fatty acid oxidation, including impaired fatty acid oxidation, clinical presentations, and complications. It also touches on the role of carnitine, CPT-1, CPT-II, and enzymes of beta-oxidation.
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