Carnitine palmitoyl transferase deficiency

Scholte, H.R. Jennekens, F.G. Bouvy, J.J. (1979) J. Neurol. Sci. 40, 39-51 Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leukocytes. Meola, G. Bresolin, N. Rimoldi, M. Velicogna, M. Fortunate, F. Scarlato, G. (1987) J. Neural. 235, 74-79 Recessive carnitine palmitoyl transferase deficiency biochemical studies in tissue cultures and platelets. 

Bougneres, P.F., Saudubray, J.M., Marsac, C., Bernard, O., Odievre, M. Girard, J. (1981). JPediatr 98 742-746. Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. 

Demaugre, F, Bonnefont, J.P., Mitchell, G., Nguyen, H.N., Pelet, A., Rimoldi, M., Di, D.S. Saudubray, J.M. (1988). Petfia/rTies 24 308-311. Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency two distinct entities. 

Carnitine palmitoyl transferase (CPT) deficiencies are commonly associated with myoglobinuria after prolonged exercise typically patients are young men and... 

In animals, the production of CO2 from [ Cjpalmitate or octanoate is not consistendy affected by riboflavin deficiency, possibly as a result of increased activity of carnitine palmitoyl transferase, which is more a response to food deprivation than to riboflavin deficiency. However, the production of C02 from [ C] adipic acid is significandy reduced, and responds rapidly (with some overshoot) to repletion with the vitamin. It has been suggested that the abiUty to metabolize a test dose of [ Cjadipic acid may provide a sensitive means of investigating ribodavin nutritional status in human beings (Bates, 1989, 1990). 

CPT-I deficiency (liver and muscle types) 255120 600528 601987 Carnitine palmitoyl transferase I <1 100,000 Liver disease, hypotonia, renal tubular acidosis AFLP... 

CPT-II deficiency 600649 600650 Carnitine palmitoyl transferase II <1 100,000 Cardiomyopathy, liver disease, congenital anomalies. Adult onset myopathy. ... 

As noted above, there have been reports that link some cases of APLP with a defect in fatty acid metabolism in the fetus. These include fetal deficiencies of long chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD), carnitine-palmitoyl transferase 1 (CPT 1), and medium chain acyl-coenzyme A dehydrogenase (MCAD). The mechanism by which defective fetal fatty acid oxidation causes maternal illness is not known. However, since the fetus uses primarily glucose metabolism for its energy needs, it is likely that toxic products from the placenta, which does use fatty acid oxidation, cause the maternal liver failure. 

Hug, G. Soukup, S. Berry, H. Bove, K.E. (1989). Pediatr. Res. 25, 115A (Abstract) Carnitine palmitoyl transferase (CPT) deficiency of CPT II but not of CPT I with reduced total and free carnitine but increased acylcarnitine. 

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