A Clinical and Biochemical Camouflage-Carnitine Palmitoyltransferase-1 Deficiency: A Case Series
Journal Title: Journal of Clinical and Diagnostic Research - Year 2018, Vol 12, Issue 2
Abstract
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.
Authors and Affiliations
Shrikiran Hebbar
Keywords
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- EP ID EP521038
- DOI 10.7860/JCDR/2018/29861.11164
- Views 50
- Downloads 0
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