Open Access Case Report

Investigating Fatigue and Exercise Intolerance in a University Immunology Clinic

Julian L Ambrus1*, Paul Isackson2, Molly Moore3, John Butsch3 and Lucia Balos4

1Departments of Medicine, SUNY at Buffalo School of Medicine, USA

2Department of Pediatrics, SUNY at Buffalo School of Medicine, USA

3Department of Surgery, SUNY at Buffalo School of Medicine, USA

4Department of Pathology, SUNY at Buffalo School of Medicine, USA

Corresponding Author

Received Date: January 31, 2020;  Published Date: February 18, 2020


Purpose: This manuscript reviews the experience of a University Immunology clinic with the evaluation of patients with idiopathic fatigue and exercise intolerance for the presence of metabolic disorders. Laboratory, biochemical and genetic studies were utilized in the evaluation.

Recent Findings: Of the 372 patients evaluated, 95% were found to have a treatable metabolic disorder. A defect in the glycogen storage pathway was found in 78 patients. Mitochondrial disorders were found in 258 patients. Myoadenylate deaminase deficiency was found in 7 patients. Various congenital myopathies were identified in 11 patients. Inflammatory myopathies were identified in 25 patients, 6 of whom had normal muscle enzymes on the initial evaluation.

Summary: The majority of patients (95%) referred with idiopathic fatigue and exercise intolerance after extensive evaluations were found to have underlying metabolic dysfunction. Frequently associated problems included gastrointestinal dysmotility disorders, recurrent infections, Raynaud’s, migraine headaches and various autoimmune diseases. Most patients showed symptomatic improvement with treatment of their metabolic dysfunction.

Keywords: Carnitine palmitoyl transferase; Mitochondria; Glycogen Storage Disease, Myoadenylate Deaminase, Asthma; Sjogren’s syndrome; Raynaud’s; Gastrointestinal dysmotility

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