A Clinical and Biochemical Camouflage-Carnitine Palmitoyltransferase-1 Deficiency: A Case Series
Published: February 1, 2018 | DOI: https://doi.org/10.7860/JCDR/2018/29861.11164
Shrikiran Hebbar, Sowmya Shashidhara, Suneel Mundkur, Shravan Kanaparthi
1. Professor and Head, Department of Paediatrics, Kasturba Medical College, Manipal, Karnataka, India.
2. Assistant Professor, Department of Paediatrics, Kasturba Medical College, Manipal, Karnataka, India.
3. Additional Professor, Department of Paediatrics, Kasturba Medical College, Manipal, Karnataka, India.
4. Senior Resident, Department of Paediatrics, Kasturba Medical College, Manipal, Karnataka, India.
Correspondence
Dr. Sowmya Shashidhara,
Assistant Professor, Department of Paediatrics, Manipal Academy of Higher Education, Manipal-576104, Karnataka, India.
E-mail: sowmyashashidhara86@gmail.com
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.
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