A clinical and biochemical camouflage-carnitine palmitoyltransferase-1 deficiency: A case series

Shrikiran Hebbar, Sowmya Shashidhara, Suneel Mundkur, Shravan Kanaparthi

Research output: Contribution to journalArticlepeer-review

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 cardiac 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.

Original languageEnglish
Pages (from-to)SR01-SR03
JournalJournal of Clinical and Diagnostic Research
Volume12
Issue number2
DOIs
Publication statusPublished - 01-02-2018

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry

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