Genetic and metabolic medicine
Metabolic causes of rhabdomyolysis
When rhabdomyolysis points to an inherited metabolic myopathy, the RHABDO red flags, how CPT2 deficiency and McArdle disease differ, what to send and when, and the management traps around fasting, anaesthesia and exercise.
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Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- Most rhabdomyolysis has an obvious external cause: crush, unaccustomed extreme exercise, heat, drugs, alcohol, seizures, infection, prolonged immobility. Acute care is the same whatever the cause (see acute kidney injury and ATN and hyperkalaemia).
- An inherited metabolic myopathy underlies a minority. Suspect it when episodes recur, follow ordinary exertion or fasting, or run in families.
- The two named in the curriculum are CPT2 deficiency (a fat oxidation defect) and McArdle disease (glycogen storage disease V). The biochemistry is in inborn errors of metabolism.
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Sources
- Kruijt N, Laforet P, Vissing J et al. 276th ENMC International Workshop: recommendations on optimal diagnostic pathway and management strategy for patients with acute rhabdomyolysis worldwide. Neuromuscul Disord 2025;50:105344Neuromuscular Disorders (European Neuromuscular Centre), 2025
- Kruijt N, van de Camp SAJH et al. Rhabdomyolysis in the era of next-generation sequencing: selecting patients with a high likelihood of a genetic susceptibility using RHABDO features. Genes (Basel) 2025;16:995Genes (MDPI), 2025
- Scalco RS, Snoeck M, Quinlivan R et al. Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy? BMJ Open Sport Exerc Med 2016;2:e000151BMJ Open Sport & Exercise Medicine, 2016
- Lucia A, Martinuzzi A, Nogales-Gadea G et al. Clinical practice guidelines for glycogen storage disease V and VII (McArdle disease and Tarui disease) from an international study group. Neuromuscul Disord 2021;31:1296-1310Neuromuscular Disorders (IamGSD study group), 2021
- Carnitine palmitoyltransferase II deficiency (GeneReviews)University of Washington, Seattle (NCBI Bookshelf)
- Glycogen storage disease type V (GeneReviews)University of Washington, Seattle (NCBI Bookshelf)
- Last updated
- 14 November 2026
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