ABSTRACT
Hypoketotic hypoglycemia; acute episodes leading to convulsions and coma; hepatomegaly; hepatic failure; adult onset myopathy; elevated levels of carnitine and carnitine phosphokinase in blood, and deficiency of carnitine palmitoyl transferase (CPT) I are the major phenotypic expression. CPT I was first described in 1980 by Bougneres et al., in a patient who developed hypoketotic hypoglycemia and morning seizures at eight 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. This disorder usually presents in infancy, often in the second six months, with acute hypoketotic hypoglycemia during an episode of fasting brought on by an intercurrent, usually viral illness, or gastroenteritis.
