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Carnitine Palmitoyltransferase II (CPT2) Deficiency in a Patient With Recurrent Rhabdomyolysis: A Case Report

Year: 2024

Type: article

Abstract: Carnitine palmitoyltransferase II (CPT2) deficiency is a rare genetic disorder that prevents the body from using long-chain fatty acids (LCFAs) for energy. We report a case of a 40-year-old male with a recent episode of rhabdomyolysis triggered by an illness. His liver function tests (LFTs) and creatine kinase (CK) levels were markedly elevated. His rhabdomyolysis improved in the hospital with supportive treatment. At follow-up appointments, it was found that he had labs consistent with CPT2 deficiency. Genetic testing confirmed a homozygous mutation in the CPT2 gene. This report highlights the importance of considering CPT2 deficiency as a cause of recurrent rhabdomyolysis, especially when triggered by non-traumatic causes.

Source: Cureus

DOI: 10.7759/cureus.76332

Authors: Kevin A Lease, David Wang

Institution: University of Missouri

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4405747795