Carnitine Palmitoyl Transferase Type 1 Deficiency: A Missed Diagnosis

Abstract A 2.5-year-old male child was admitted with altered sensorium due to hepatic encephalopathy. His viral markers were negative. There was a family history of death of a sibling at 2 years of age with similar illness. He had hypertriglyceridemia. Tandem mass spectrometry was suggestive of carnitine palmitoyltransferase 1A (CPT1A) deficiency. Genetic evaluation revealed a homozygous pathogenic variant in the CPT1A gene. This child had a stormy course and expired within 48 h of admission. The diagnosis was made a few days later when the reports were available.