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Fast Facts: Long-Chain Fatty Acid Oxidation Disorders for Patients
Long-chain fatty acid oxidation disorders (LC-FAODs) are rare, inherited conditions. With an LC-FAOD, the body has trouble breaking down fat for energy, which can lead to symptoms such as low blood sugars, muscle pain/weakness, and heart problems. LC-FAODs are diagnosed by newborn screening or symptoms later in life. Management includes a specialized nutrition plan, and prevention of fasting, especially during illness. A person with an LC-FAOD can live a full, active and healthy life with lifestyle changes and close coordination with, and support from, an expert healthcare team. Table of Contents: ‧ Fats and fatty acids ‧ Fatty acids for energy ‧ Long-chain fatty acid oxidation disorders ‧ Diagnosis ‧ Genetic testing ‧ Living with an LC-FAOD ‧ Monitoring ‧ What can I do to help my child? ‧ Genetic counseling ‧ How many people are affected? ‧ Who’s who?
- Cover
- Contents
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1. Fats and fatty acids
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Fat as an energy source
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Fatty acids are building blocks
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2. Fatty acids for energy
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Introducing beta oxidation
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- 3. Long-chain fatty acid oxidation disorders
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4. Diagnosis
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Blood and urine tests
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Testing enzyme activity
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Symptoms
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- 5. Genetic testing
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6. Living with an LC-FAOD
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Diet
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Fasting times and regular meals
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Exercise and sport
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Illness and the emergency/sick day plan
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Metabolic crisis
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Immunizations
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- 7. Monitoring
- 8. What can I do to help my child?
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9. Genetic counseling
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Prenatal diagnosis
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Pregnancy
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- 10. How many people are affected?
- Who’s who?
- Guide to words and phrases
- Useful resources
- Sources used in the preparation of this publication
- Copyright
- 出版地 : 德國
- 語言 : 德文
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