Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency

Clinica Chimica Acta

Volumn 273, Issue 2, 1998, Pages 161-170

  Fontaine, Monique ^a   Briand, Gilbert ^a,b   Largillière, Claude ^a   Degand, Pierre ^a   Divry, Priscille ^c   Vianey Saban, Christine ^c   Mousson, Bénédicte ^c   Vamecq, Joseph ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b UNIV LILLE   (France)

^c HÔPITAL DEBROUSSE   (France)

Author keywords

Acylcarnitine; Carnitine palmitoyltransferase type II deficiency; L Carnitine; Mass spectrometry

Indexed keywords

ACETYLCARNITINE; ACYLCARNITINE; CARBOXYLIC ACID; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; PHENYTOIN;

ACIDURIA; ARTICLE; CARNITINE DEFICIENCY; CASE REPORT; ENZYME DEFICIENCY; EPILEPSY; FATTY ACID OXIDATION; HUMAN; HYPOGLYCEMIA; INFANT; METABOLIC DISORDER; PRIORITY JOURNAL;

EID: 0032565650     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(98)00041-2     Document Type: Article

References (32)

1. [1] Bremer J. Carnitine - Metabolism and functions. Physiol Rev 1983;63:1420-80.
2. [2] Schulz H. Beta-oxidation of fatty acids. Biochim Biophys Acta 1991;1081:109-20.
3. [3] Vamecq J, Draye JP. Pathophysiology of peroxisomal β-oxidation. Essays Biochem 1989;24:115-225.
4. [4] Aoyamat T, Ueno I, Kamijo T et al. Rat very long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product. J Biol Chem 1994;269:19088-94.
5. [5] Weinberger MJ, Rinaldo P, Strauss AW et al. Intact alpha-subunit is required for membrane-binding of human mitochondrial trifunctional beta-oxidation protein but is not necessary for confirming 3-ketoacyl-CoA thiolase activity to the beta-subunit. Biochem Biophys Res Commun 1995;209:47-52.
6. [6] Murthy MSR, Pande SV. Malonyl-CoA binding site and the overt carnitine palmitoyltransferase activity reside on the opposite sides of the outer mitochondrial membrane. Proc Natl Acad Sci USA 1987;84:378-82.
7. [7] McGarry JD, Foster DW. Regulation of hepatic fatty acid oxidation and ketone body production. Annu Rev Biochem 1980;49:395-420.
8. [8] DiMauro S, DiMauro PMM. Muscle carnitine palmitoyltransferase deficiency and myoglobinuria. Science 1973;182:929-31.
9. [9] DiMauro S, Trevisan C. Carnitine palmitoyltransferase (CPT) deficiency: a review. In: Schotland DL, editor. Disorders of the motor unit. New York: John Wiley and Sons, 1982:657-66.
10. [10] DiMauro S, Papadimitriou A. Carnitine palmitoyl transferase deficiency. In: Engel AG, Banker BQ, editors. Myology: basic and clinical. New York: McGraw-Hill, 1986:1697-708.
11. [11] Roe CR, Coates PM. Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease, seventh ed. New York: McGraw Hill, 1995:1501-35.
12. [12] Bennet MJ, Halle DE. Defects of mitochondrial β-oxidation enzymes. In: Ferrari R, Dimauro S, Sherwood G, editors. L-Carnitine and its role in medicine: from function to therapy. New York: Academic Press 1992:187-206.
13. [13] Demaugre F, Bonnefont JP, Cepanec C et al. Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects. Pediatr Res 1990;27:497-500.
14. [14] McGarry JD, Woeltje KF, Schroeder JG et al. Carnitine palmitoyltransferase. Structure/ function/regulatory relationships. In: Tanaka K, Coates PM, editors. Fatty acid oxidation: Clinical, biochemical and molecular aspects. New York: Alan R. Liss, 1990:193-208.
15. [15] Demaugre F, Bonnefont JP, Colonna M et al. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 1991;87:859-76.
16. [16] Hug G, Bove KE, Soukup S. Lethal neonatal multiorgan deficiency of carnitine: palmitoyltransferase II. New Engl J Med 1991;325:1862-4.
17. [17] Elpeleg ON, Joseph A, Branski D et al. Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. J Pediatr 1993;122:917-9.
18. [18] North KN, Hoppel CL, De Girolami U et al. Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J Pediatr 1995;127:414-20.
19. [19] Vianey-Saban C, Stremler N, Paut O et al. Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset. J Inherit Metab Dis 1995;18:362-3.
20. [20] Briand G, Fontaine M, Schubert R et al. Direct analysis by electrospray ionization and matrix-assisted laser desorption ionization mass spectrometry of standard and urinary acylcarnitines. Comparison with fast atom bombardment and gas chromatography chemical ionization mass spectrometry data. J Mass Spectrom 1995;30:1731-41.
21. [21] Fontaine M, Porchet N, Largillière C et al. Biochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria. Clin Chem 1989;35:2148-51.
22. [22] Fontaine M, Briand G, Ser N et al. Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency. Clin Chim Acta 1996;255:67-83.
23. [23] Mannaerts GP, Debeer LJ. Mitochondrial and peroxisomal β-oxidation in rat liver. Ann NY Acad Sci 1982;386:30-8.
24. [24] Farrell SO, Bieber LL. Carnitine octanoyltransferase of mouse liver peroxisomes: properties and effect of hypolipidemic drugs. Arch Biochem Biophys 1983;222:123-32.
25. [25] Leighton F, Brandan E, Lazo O et al. Subcellular fractionation studies on the organisation of fatty acid oxidation by liver peroxisomes. Ann NY Acad Sci 1982;386:62-78.
26. [26] Vamecq J, Draye JP. Comparison between the formations and oxidation of dicarboxylylcarnitine esters in rat liver and skeletal muscle: possible implications for human inborn disorders of mitochondrial β-oxidation. J Inherit Metab Dis 1989;12:58-63.
27. [27] Vamecq J, Draye JP. Peroxisomal and mitochondrial β-oxidation of monocarboxylyl-CoA, omega-hydromonocarboxylyl-CoA and dicarboxylyl-CoA esters in untreated and clofibrate-treated rat tissues. J Biochem 1989;106:216-22.
28. [28] Bergseth S, Hokland BM, Bremer J. Metabolism of dicarboxylic acids in vivo and in the perfused kidney of rat. Biochim Biophys Acta 1988;961:103-9.
29. [29] Wada F, Usami M. Studies on fatty acid omega-oxidation. Antiketotic effect and gluconeogenicity of dicarboxylic acids. Biochim Biophys Acta 1977;487:261-8.
30. [30] Mortensen PB, Kolvraa S, Gregersen N et al. Cyanide-insensitive and clofibrate enhanced β-oxidation of dodecadioic acid in rat liver: an indication of peroxisomal β-oxidation of n-dicarboxylic acids. Biochim Biophys Acta 1982;713:383-7.
31. [31] Vamecq J, Draye JP, Brison J. Rat liver metabolism of dicarboxylic acids. Am J Physiol 1989;259:0-7.
32. [32] Draye JP, Vamecq J. The gluconeogenicity of fatty acids in mammals. Trends Biochem Sci 1989;14:478-9.