A Clinical and Biochemical Camouflage-Carnitine Palmitoyltransferase-1 Deficiency: A Case Series
Dr. Sowmya Shashidhara,
Assistant Professor, Department of Paediatrics, Manipal Academy of Higher Education, Manipal-576104, Karnataka, India.
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 clinicianâ€™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.