Carnitine Palmitoyl Transferase Deficiency in a University Immunology Practice

Abstract:

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.

Source: Bax K, Isackson PJ, Moore M, Ambrus JL Jr. Carnitine Palmitoyl Transferase Deficiency in a University Immunology Practice. Curr Rheumatol Rep. 2020 Feb 14;22(3):8. doi: 10.1007/s11926-020-0879-9. PMID: 32067119. https://pubmed.ncbi.nlm.nih.gov/32067119/

Chronic Fatigue: When to Suspect an Inherited Metabolic Disease? 

Abstract:

Chronic fatigue is a non-specific symptom, frequent in outpatient adults’ consultations. Persistent physical fatigue of unknown etiology should prompt the search for rare diseases including inherited metabolic disorder (IMD) after elimination of common causes. The main characteristic of chronic fatigue in IMD is its dynamic nature, worsened by circumstances leading to an increased metabolism such as physical exertion, cold, fasting or infection. IMD leading to chronic fatigue are metabolic myopathies, in particular glycogen storage disease affecting muscle, fatty acid oxidation disorders and mitochondrial diseases. The diagnosis is confirmed by specific biochemical and/or molecular analyzes with multidisciplinary management.

Source: Tankeu AT, Tran C. Fatigue chronique: quand suspecter une maladie héréditaire du métabolisme? [Chronic Fatigue: When to Suspect an Inherited Metabolic Disease?]. Praxis (Bern 1994). 2022 Jan;110(1):38-43. French. doi: 10.1024/1661-8157/a003772. PMID: 34983209. https://pubmed.ncbi.nlm.nih.gov/34983209/