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Fast Facts: Long-Chain Fatty Acid Oxidation Disorders for Patients

出版社
出版日期
2021/05/21
閱讀格式
EPUB
書籍分類
學科分類
ISBN
9783318069570

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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
  • 1. Fats and fatty acids
    • Fat as an energy source
    • Fatty acids are building blocks
  • 2. Fatty acids for energy
    • Introducing beta oxidation
  • 3. Long-chain fatty acid oxidation disorders
  • 4. Diagnosis
    • Blood and urine tests
    • Testing enzyme activity
    • Symptoms
  • 5. Genetic testing
  • 6. Living with an LC-FAOD
    • Diet
    • Fasting times and regular meals
    • Exercise and sport
    • Illness and the emergency/sick day plan
    • Metabolic crisis
    • Immunizations
  • 7. Monitoring
  • 8. What can I do to help my child?
  • 9. Genetic counseling
    • Prenatal diagnosis
    • Pregnancy
  • 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

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