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.
Item Type: | Article |
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Uncontrolled Keywords: | Children; Encephalopathy; Metabolic. |
Subjects: | Medicine > KMC Manipal > Paediatrics |
Depositing User: | KMC Library |
Date Deposited: | 28 Feb 2018 10:42 |
Last Modified: | 28 Feb 2018 10:42 |
URI: | http://eprints.manipal.edu/id/eprint/150644 |
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