Carnitine Palmitoyl Transferase Deficiency in a University Immunology Practice

Author:

Bax Kiley,Isackson Paul J.,Moore Molly,Ambrus Julian L.

Publisher

Springer Science and Business Media LLC

Subject

Rheumatology

Reference99 articles.

1. • Gorman GS, Elson JL, Newman J, Payne B, McFarland R, Newton JL, et al. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease. Neuromuscul Disord. 2015;25(7):563–6. https://doi.org/10.1016/j.nmd.2015.03.001This reference discusses the frequency of fatigue in patients with metabolic diseases.

2. • Norheim KB, Jonsson G, Omdal R. Biological mechanisms of chronic fatigue. Rheumatology. 2011;50(6):1009–18. https://doi.org/10.1093/rheumatology/keq454This reference discusses the mechanisms causing chronic fatigue.

3. • Cordero MD, de Miguel M, Carmona-Lopez I, Bonal P, Campa F, Moreno-Fernandez AM. Oxidative stress and mitochondrial dysfunction in fibromyalgia. Neuro Endocrinol Lett. 2010;31(2):169–73 This reference discusses evidence for mitochondrial dysfunction in fibromyalgia.

4. • Abdullah M, Vishwanath S, Elbalkhi A, Ambrus JL Jr. Mitochondrial myopathy presenting as fibromyalgia: a case report. J Med Case Rep. 2012;6(1):55. https://doi.org/10.1186/1752-1947-6-55This is a case report of a patient diagnosed with fibromyalgia who turned out to have a mitochondrial disorder and responded symptomatically to treatment of the mitochondrial disorder.

5. • Cordero MD, Alcocer-Gomez E, Marin-Aguilar F, Rybkina T, Cotan D, Perez-Pulido A, et al. Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation. J Med Genet. 2016;53(2):113–22. https://doi.org/10.1136/jmedgenet-2015-103392This is the report of a family with a mitochondrial mutation who had symptoms of fibromyalgia.

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