Deficiency of Carnitine Palmitoyltransferase I

Abstract

Defective activity of carnitine palmitoyltransferase I was demonstrated in fibroblasts derived from a patient with hypoketotic hypoglycemia. The level of activity observed was approximately 10% of the control mean. Oxidation of palmitate by intact fibroblasts was reduced to 5% of control values. The patient presented at age 14 months with seizures and was found to have marked hypoglycemia and no ketones in the urine. In response to fasting, she developed hypoglycemia, but the curves for acetoacetate and 3-hydroxybutyrate were flat. Administration of medium-chain triglycerides relieved the hypoglycemia and generated a brisk ketogenesis.

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase‐1 deficiency

“…The three previously reported cases of the hepatic form of CPT-1 deficiency also presented with episodes of fasting hypoketotic hypoglycaemia late in the first year of life (Bougneres et al 1981;Demaugre et al 1988;Bonnefont et al 1989). In neither the present case nor those reported previously were there elevations of urinary medium-chain dicarboxylic acids.…”

“…The majority of these disorders involve the intramitochondrial fl-oxidation cycle and are characterized by abnormally low levels of carnitine in plasma and tissue (Stanley 1987). The present report describes alterations in plasma carnitine concentrations associated with the hepatic form of carnitine palmitoyltransferase-1 (CPT-1) deficiency (Bougneres et al 1981;Demaugre et al 1988;Bonnefont et al 1989).…”

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

“…Since the first report in 1981 (Bougneres et al, 1981), over 20 families have been reported (Demaugre et al, 1988;Tein et al, 1989;Bonnefont et al, 1989;Vianey-Saban et al, 1993;Gray et al, 1991;Stanley et al, 1992;Haworth et al, 1992;Falik-Borenstein et al, 1992;Yamamoto et al, 1994;Bergman et al, 1994;Schaefer et al, 1997;Innes et al, 1997;Ijlst et al, 1998;Olpin et al, 2001;Sim et al, 2001;Invernizzi et al, 2001;Al-Aqeel et al, 2001). The sex ratio is about one.…”

Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

“…Patients 1, 2, and 3 have previously been reported elsewhere (Bougnères et al 1981;Bonnefont et al 1989;Falik-Borenstein et al 1992). All of them had typical features of CPT1A-deficiency with episodic hypoketotic hypoglycaemia during infancy.…”