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Questions and Answers
Which of the following is NOT a cause of impaired fatty acid oxidation?
Which of the following is NOT a cause of impaired fatty acid oxidation?
What is a potential complication of repeated hypoglycemia due to impaired fatty acid oxidation?
What is a potential complication of repeated hypoglycemia due to impaired fatty acid oxidation?
Which of the following treatments would likely be prescribed for a patient with carnitine deficiency?
Which of the following treatments would likely be prescribed for a patient with carnitine deficiency?
What is the recommended dietary intervention for a patient with impaired fatty acid oxidation?
What is the recommended dietary intervention for a patient with impaired fatty acid oxidation?
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Which enzyme deficiency is related to beta-oxidation impairment?
Which enzyme deficiency is related to beta-oxidation impairment?
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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
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Description
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.
