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/