ABSTRACT
Deficiency of carnitine palmitoyl transferase (CPT) I was first described in 1980 by Bougneres, Saudubray, Marsac and their colleagues [1,2], in a patient who developed hypoketotic hypoglycemia and morning seizures at 8 months-of-age. They referred to the disorder as deficiency of hepatic carnitine acyl transferase, or palmitoyl transferase, to distinguish it from the deficiency of muscular CPT, in which there is a very different phenotype of muscle pain and rhabdomyolysis, usually
observed in adults after exercise [3]. They documented deficient carnitine acyl transferase activity in biopsied liver. Bonnefont, Demaugre and colleagues [4], clearly distinguished CPT I and CPT II, and demonstrated that CPT I activity was deficient in fibroblasts of the original patient and two others [4-6].
