Carnitine Palmitoyl Transferase Deficiency in a University Immunology Practice.

Autor: Bax K; Department of Medicine, SUNY at Buffalo School of Medicine, Buffalo, NY, USA., Isackson PJ; Department of Pediatrics, SUNY at Buffalo School of Medicine, Buffalo, NY, USA., Moore M; Department of Surgery, SUNY at Buffalo School of Medicine, Buffalo, NY, USA., Ambrus JL Jr; Department of Medicine, SUNY at Buffalo School of Medicine, Buffalo, NY, USA. jambrus@buffalo.edu.; Division of Allergy, Immunology and Rheumatology SUNY at Buffalo School of Medicine, Room 8030C, Center for Translational Research, 875 Ellicott Street, Buffalo, NY, 14203, USA. jambrus@buffalo.edu.
Jazyk: angličtina
Zdroj: Current rheumatology reports [Curr Rheumatol Rep] 2020 Feb 14; Vol. 22 (3), pp. 8. Date of Electronic Publication: 2020 Feb 14.
DOI: 10.1007/s11926-020-0879-9
Abstrakt: Purpose: 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.
Recent Findings: 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: MEDLINE
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