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http://dx.doi.org/10.1016/j.nmd.2019.05.002 | DOI Listing |
J Investig Med High Impact Case Rep
November 2024
Kern Medical-UCLA, Bakersfield, CA, USA.
Cureus
September 2024
Department of Nephrology, University Hospital Center "Mother Teresa", Tirana, ALB.
Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inherited disorder affecting fatty acid metabolism. This enzymatic defect presents with a broad clinical spectrum, from severe neonatal forms that can be fatal, to milder myopathic variants characterized by myalgia and recurrent myoglobinuria in adolescence and adulthood. Herein, we report the case of a male patient who developed exertional rhabdomyolysis and acute kidney injury due to CPT2 deficiency.
View Article and Find Full Text PDFCureus
September 2024
Internal Medicine, Unidade Local de Saúde do Algarve, Unidade Hospitalar de Portimão, Portimão, PRT.
J Assoc Physicians India
September 2024
Consultant, Department of Nephrology, Manipal Hospitals, Bengaluru, Karnataka, India.
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