Carnitine Palmitoyl Transferase Deficiency in a University Immunology Practice
Autor: | Paul J. Isackson, Julian L. Ambrus, Molly Moore, Kiley Bax |
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Rok vydání: | 2020 |
Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Biopsy Lipid Metabolism Disorders Arthritis Exercise intolerance 03 medical and health sciences 0302 clinical medicine Bloating Metabolic Diseases Rheumatology Fibromyalgia Internal medicine medicine Humans Aged Asthma Aged 80 and over 030203 arthritis & rheumatology Carnitine O-Palmitoyltransferase business.industry Muscles Sleep apnea Middle Aged medicine.disease 030104 developmental biology Female medicine.symptom Vasculitis business |
Zdroj: | Current Rheumatology Reports. 22 |
ISSN: | 1534-6307 1523-3774 |
Popis: | This report describes the clinical manifestations of 35 patients sent to a University Immunology clinic with a diagnosis of fatigue and exercise intolerance who were identified to have low carnitine palmitoyl transferase activity on muscle biopsies. All of the patients presented with fatigue and exercise intolerance and many had been diagnosed with fibromyalgia. Their symptoms responded to treatment of the metabolic disease. Associated symptoms included bloating, diarrhea, constipation, gastrointestinal reflux symptoms, recurrent infections, arthritis, dyspnea, dry eye, visual loss, and hearing loss. Associated medical conditions included Hashimoto thyroiditis, Sjogren’s syndrome, seronegative arthritis, food hypersensitivities, asthma, sleep apnea, and vasculitis. This study identifies clinical features that should alert physicians to the possibility of an underlying metabolic disease. Treatment of the metabolic disease leads to symptomatic improvement. |
Databáze: | OpenAIRE |
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