Carnitne Palmitoyltranferase Type 1 Defciency: A Case Report of Faty Acid Oxidaton Disorder Encephalopathy

Carnitine palmitoyltransferase-1 (CPT-1) deficiency is a rare autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fewer than 30 case reports. 

A 30-month-old child with fever and loss of consciousness was referred to our hospital. She had symptoms of colds for three days that were treated, but she had anorexia. Her abdomen was soft and hepatomegaly 5 cm below the edge of the rib was detected. According to a neurological consultation, with the probability of a seizure, the patient began to receive levetiracetam. The patient was treated with sodium benzoate due to her decreased level of consciousness and increased blood ammonia (300). In the acylcarnitine profile, mildly elevated levels of single acylcarnitine were seen to confirm the diagnosis of CPT-1 deficiency.

CPT-1 deficiency is a rare autosomal recessive defect of mitochondrial long- chain fatty acid oxidation that presents as an acute “Reye-like” hepatic encephalopathy and non-ketotic hypoglycemia, developmental delay, and hepatomegaly.