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

Shrikiran Hebbar, Sowmya Shashidhara, Suneel Mundkur, Shravan Kanaparthi

Research output: Contribution to journalArticle

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.

LanguageEnglish
PagesSR01-SR03
JournalJournal of Clinical and Diagnostic Research
Volume12
Issue number2
DOIs
Publication statusPublished - 01-02-2018

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Camouflage
Carnitine O-Palmitoyltransferase
Lethargy
Acidosis
Protein Isoforms
Seizures
Fatty Acids
Tissue
Oxidation
Enzymes
Carnitine palmitoyl transferase 1A deficiency

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry

Cite this

Hebbar, Shrikiran ; Shashidhara, Sowmya ; Mundkur, Suneel ; Kanaparthi, Shravan. / A clinical and biochemical camouflage-carnitine palmitoyltransferase-1 deficiency : A case series. In: Journal of Clinical and Diagnostic Research. 2018 ; Vol. 12, No. 2. pp. SR01-SR03.
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A clinical and biochemical camouflage-carnitine palmitoyltransferase-1 deficiency : A case series. / Hebbar, Shrikiran; Shashidhara, Sowmya; Mundkur, Suneel; Kanaparthi, Shravan.

In: Journal of Clinical and Diagnostic Research, Vol. 12, No. 2, 01.02.2018, p. SR01-SR03.

Research output: Contribution to journalArticle

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