Hebbar, Shrikiran and Shashidhara, Sowmya and Mundkur, Suneel C and Kanaparthi, Shravan (2018) A clinical and biochemical camouflage-carnitine palmitoyltransferase-1 deficiency: A case series. Journal of Clinical and Diagnostic Research, 12 (2). SR01-SR03. ISSN 0973-709X

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Abstract

Carnitine Palmitoyltransferase-1 (CPT-1) deficiency is a rare metabolic disorder of fatty acid oxidation. The presentation of this deficiency is a mixed bag of several clinical and biochemical manifestations which is determined by the tissue-specific isoforms of the enzyme. Presenting in one way, which can be lethal due to cardia complications, another way that this disorder can come to a clinician’s attention is when children manifests with increasing lethargy during intercurrent illnesses. Rarely, but not exclusively, a seizure may be the only presenting complaint along with severe metabolic acidosis. In this case series, we present a discussion of three cases with CPT1 deficiency presenting with a camouflage of various contrasting clinical and biochemical manifestations.

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