Carnitine Palmitoyl Transferase 1A Deficiency in an Adult: A Fatal Metabolic Crisis: Case Report

Background: Carnitine palmitoyl transferase 1A (CPT1A) deficiency is an uncommon autosomal recessive disorder of fatty acid oxidation in which long-chain fatty acids fail to enter the hepatic mitochondria normally. When such patients encounter fasting or physiological stress, they are prone to acute metabolic crises marked by hypoketotic hypoglycemia, hyperammonemia, and encephalopathy. Case Presentation: We document a 21-year-old man with genetically confirmed CPT1A deficiency who had been under follow-up since early childhood. He arrived at our center with a two-day history of abdominal discomfort, vomiting, and progressive alteration of consciousness. Investigations demonstrated markedly elevated ammonia at 622 µmol/L together with metabolic acidosis. Intensive treatment was initiated, encompassing intravenous dextrose infusions, ammonia-reducing agents, L-carnitine replacement, broad-spectrum antimicrobials, and repeated Sustained Low-Efficiency Dialysis (SLED). Despite these efforts, the patient developed refractory hyperammonemia encephalopathy, was subsequently found to have cytomegalovirus meningoencephalitis, and deteriorated into septic shock. Outcome: Neurological function declined relentlessly. The patient ultimately succumbed to multiorgan failure despite every available measure of intensive care support. Conclusion: Metabolic decompensation in CPT1A-deficient adults, though seldom encountered, carries a grave prognosis. Recognition of early instability, vigorous ammonia control, and aggressive treatment of concurrent infections are all critical determinants of outcome.