ArticleCureus2024
Diagnostic Challenges in the Myopathic Variant of Carnitine Palmitoyltransferase II Deficiency: A Case Report.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors.
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Abstract
Carnitine palmitoyltransferase II deficiency is a rare metabolic disorder affecting the mitochondrial oxidation of fatty acids. We present a case of the myopathic form in a 10-year-old Bahraini male following an initial presentation of exercise-induced rhabdomyolysis and transaminitis. There was no consanguinity or findings suggestive of an underlying inborn metabolic disorder. Tandem mass spectrometry on dried blood spots showed no abnormal acyl-carnitines profile. The condition improved with hyperhydration, high glucose intake, carnitine, and alkalinization. Genetic testing revealed a compound heterozygous pathogenic variant
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