Inborn Errors of Mitochondrial Fatty Acid Oxidation: Overview from a Clinical Perspective
| Autor: | Han-Wook Yoo |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
chemistry.chemical_classification
Metabolic defects of mFAO Newborn screening Opinion business.industry Endocrinology Diabetes and Metabolism Mitochondrial fatty acid β-oxidation (mFAO) Hypoketotic hypoglycemia Fatty acid Carnitine shuttle Bioinformatics medicine.disease Carnitine transport chemistry Internal Medicine medicine Carnitine medicine.symptom Cardiology and Cardiovascular Medicine Myopathy business Rhabdomyolysis medicine.drug |
| Zdroj: | Journal of Lipid and Atherosclerosis |
| ISSN: | 2288-2561 2287-2892 |
| Popis: | Mitochondrial fatty acid β-oxidation (mFAO), which is the major pathway for the degradation of fatty acids and is critical for maintaining energy homeostasis in the human body, consists of carnitine transport, the carnitine shuttle, and fatty acid β-oxidation. Inherited metabolic defects of mFAO result in more than 15 distinct mFAO disorders (mFAODs) with varying clinical manifestations. The common elements of the clinical presentation of mFAODs are hypoketotic hypoglycemia, (cardio)myopathy, arrhythmia, and rhabdomyolysis, indicating the importance of FAO during fasting or stressful situations. The management of all mFAODs includes avoidance of fasting, aggressive treatment during illness, and supplementation of carnitine or appropriate nutritional support, if necessary. Through the introduction of newborn screening using tandem mass spectrometry, early identification of mFAODs became feasible, leading to an early initiation of treatment with improved outcomes. However, many unmet needs remain with regard to the long-term management of patients with mFAODs. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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