Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose
| Autor: | Mads Godtfeldt Stemmerik, Astrid Emilie Buch, Nanna S. Poulsen, Karen Lindhardt Madsen, John Vissing, Allan M. Lund |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Weakness Adolescent Endocrinology Diabetes and Metabolism Clinical Biochemistry Context (language use) Carbohydrate metabolism Biochemistry Lipid Metabolism Inborn Errors Rhabdomyolysis Young Adult 03 medical and health sciences 0302 clinical medicine Endocrinology Functional residual capacity Internal medicine Humans Medicine Muscle Skeletal Exercise Muscle Weakness Mitochondrial Trifunctional Protein business.industry Fatty Acids Biochemistry (medical) Dietary management Case-control study Mitochondrial Myopathies Muscle weakness Prognosis medicine.disease Glucose 030104 developmental biology Case-Control Studies Sweetening Agents Female Nervous System Diseases medicine.symptom Cardiomyopathies business Oxidation-Reduction 030217 neurology & neurosurgery Follow-Up Studies |
| Zdroj: | The Journal of Clinical Endocrinology & Metabolism. 104:3610-3613 |
| ISSN: | 1945-7197 0021-972X |
| Popis: | Context Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD) affects oxidation of long-chain fatty acids (FAO) and is associated with risk of metabolic crises and episodic rhabdomyolysis. Case Description We present the cases of two patients with LCHADD. Patient 1 (male, 26 years old) was severely affected by muscle weakness and neuropathy. He was diagnosed at age 20 years and was nonadherent to standard dietary management. MRI revealed significant fat replacement of muscle in both calves. Patient 2 (female, 15 years old) was diagnosed at age 1 year. She had no muscle weakness and was compliant with the recommended diet. Compared with healthy persons, both patients had reduced FAO and palmitate oxidation, measured with indirect calorimetry and stable isotope technique during a submaximal cycle ergometer test. Patient 2 had some residual capacity to increase FAO and a compensatory higher carbohydrate oxidation, which ensured a near-normal exercise capacity. Patient 1 was unable to increase FAO and could only complete 23 minutes of exercise, vs 60 minutes by patient 2 and healthy persons. In both, 10% IV infusion of glucose (IV-glucose) during exercise increased carbohydrate oxidation slightly, but endurance was not improved, which likely relates to the fixed weakness in patient 1 and because the residual FAO was suppressed by the glucose infusion in both. Conclusion The two patients illustrate that FAO is impaired and carbohydrate oxidation is elevated during exercise in patients affected by LCHADD, compared with healthy persons, but IV-glucose has no beneficial effect on exercise tolerance in LCHADD. |
| Databáze: | OpenAIRE |
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