Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

Human Mutation

Volumn 21, Issue 5, 2003, Pages 493-501

  Thuillier, Laure ^a   Rostane, Hidayeth ^a   Droin, Veronique ^a   Demaugre, France ^a   Brivet, Michèle ^c   Kadhom, Noman ^a   Prip Buus, Carina ^b   Gobin, Stéphanie ^a   Saudubray, Jean Marie ^a   Bonnefont, Jean Paul ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c BICÊTRE HOSPITAL   (France)

Author keywords

Carnitine palmitoyltransferase 2; CPT2; DGGE; Fatty acid oxidation; Genotype phenotype; LCFA

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; COMPLEMENTARY DNA; FATTY ACID; GENOMIC DNA; LONG CHAIN FATTY ACID; DNA;

AMINO ACID SEQUENCE; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; DISEASE SEVERITY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GENE MUTATION; GENOTYPE; HUMAN; LIVER FAILURE; MUSCLE DISEASE; MYOPATHY; NUCLEOTIDE SEQUENCE; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RHABDOMYOLYSIS; ADULT; CHEMISTRY; COMPARATIVE STUDY; ENZYMOLOGY; GENETICS; INFANT; METABOLISM; MITOCHONDRIAL MYOPATHY; MUTATION; OXIDATION REDUCTION REACTION; PATHOLOGY; SEQUENCE HOMOLOGY;

ADULT; AMINO ACID SEQUENCE; CARNITINE O-PALMITOYLTRANSFERASE; DNA; DNA MUTATIONAL ANALYSIS; FATTY ACIDS; GENOTYPE; HUMANS; INFANT; MITOCHONDRIAL MYOPATHIES; MUTATION; OXIDATION-REDUCTION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0037404560     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10201     Document Type: Article

References (47)

1. Bieber LL. 1988. Carnitine. Annu Rev Biochem 57:261-283.
2. Bonnefont JP, Taroni F, Cavadini P, Cepanec C, Brivet M, Saudubray JM, Leroux JP, Demaugre F. 1996. Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. Am J Hum Genet 58:971-978.
3. Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L. 1999. Carnitine palmitoyltransferase deficiencies. Mol Genet Metab 68:424-440.
4. Britton CH, Schultz RA, Zhang B, Esser V, Foster DW, McGarry JD. 1995. Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene. Proc Natl Acad Sci USA 92:1984-1988.
5. Brivet M, Slama A, Saudubray JM, Legrand A, Lemonnier A. 1995. Rapid diagnosis of long-chain and medium-chain fatty acid oxidation disorders using lymphocytes. Ann Clin Biochem 32:154-159.
6. Bruno C, Bado M, Minetti C, Cordone G, DiMauro S. 2000. Novel mutation in the CPT II gene in a child with periodic febrile myalgia myoglobinuria. J Child Neurol 15:390-393.
7. Dai J, Zhu H, Shi J, Woldegiorgis G. 2000. Identification by mutagenesis of conserved arginine and tryptophan residues in rat liver carnitine palmitoyltransferase I important for catalytic activity. J Biol Chem 275:22020-22024.
8. Demaugre F, Bonnefont JP, Cepanec C, Scholte J, Saudubray JM, Leroux JP. 1990. Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects. Pediatr Res 27:497-500.
9. Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Leroux JP, Saudubray JM. 1991. Infantile form of carnitine palmitoyl-transferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87:859-864.
10. Deschauer M, Wieser T, Zierz S. 1997. Carnitine palmitoyl-transferase II deficiency: three novel mutations. Ann Neurol 42:414.
11. Deschauer M, Wieser T, Schroder R, Zierz S. 2002. A novel nonsense mutation (515de14) in muscle carnitine palmitoyltransferase II deficiency. Mol Genet Metab 75:181-185.
12. Di Mauro S, Di Mauro PM. 1973. Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science 182:929-931.
13. Elpeleg ON, Hammerman C, Saada A, Shaag A, Golzand E, Hochner-Celnikier D, Berger I, Nadjari M. 2001. Antenatal presentation of carnitine palmitoyltransferase II deficiency. Am J Med Genet. 102:183-187.
14. Esser V, Brown NF, Cowan AT, Foster DW, Mc Garry JD. 1996. Expression of a cDNA isolated from rat brown adipose tissue and heart identifies the product as the muscle isoform of carnitine palmitoyltransferase 1 (M-CPT1): M-CPT1 is the predominant CPT1 isoform expressed in both white (epididymal) and brown adipocytes. J Biol Chem 271:6972-6977.
15. Finocchiaro G, Taroni F, Rocchi M, Martin AL, Colombo I, Tarelli GT, DiDonato S. 1991. cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci USA 88:661-665.
16. Fischer SG, Lerman LS. 1983. DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory. Proc Natl Acad Sci USA 80:1579-1583.
17. Gellera C, Benke PJ, Cavadini P, Dethlefs S, Baratta S, Garavaglia B, DiDonato S, Taroni F. 1992. Lethal carnitine palmitoyltransferase II deficiency in newborns: a molecular-genetic study. In: Coates PM, Tanaka K, editors. New development in fatty acid oxidation. New York: Wiley-Liss. p 301-308.
18. Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox B, Cederbaum S, Haas R, Nyhan W, Green A, Gray G, Girard J, Thuillier L. 2002. Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. Hum Genet 111:179-189.
19. Hug G, Bove KE, Soukup S. 1991. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 325:1862-1864.
20. Ijlst L, Hendriksen AGJ, Ruiter JPN, Wanders RJ. 1999. Molecular basis of CPTII deficiency: identification of 9 novel mutations. J Inher Metab Dis 22(Suppl 1):A53.
21. Kerner J, Bieber L. 1990. Isolation of a malonyl-CoA-sensitive CPT/beta-oxidation enzyme complex from heart mitochondria. Biochemistry 29:4326-4334.
22. Martin MA, Rubio JC, del Hoyo P, Garcia A, Bustos F, Campos Y, Cabello A, Culebras JM, Arenas J. 2000. Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. Hum Mutat 15:579-580.
23. Martinez G, Ribes A, Garavaglia B, Invernizzi F, Campistol J, Vila C, Briones P, Rodes M, Vilaseca MA, Millington DS, Baratta S, Taroni F. 1997. Favorable clinical evolution in a 20-year-old girl with the infantile form of carnitine palmitoyltransferase II deficiency. Seventh international congress of inborn errors of metabolism, Vienna, May 21-25, Abstr 0101.
24. McGarry JD, Foster DW. 1980. Regulation of hepatic fatty acid oxidation and ketone body production. Annu Rev Biochem 49:395-420.
25. Merinero B, Castro M, Gangoiti J, Martin MA, Perez-Cerda C, Alonso F, Duran M, Arenas J, Ugarte M. 1998. Carnitine palmitoyltransferase II deficiency with infantile presentation: biochemical and genetic analysis. J Inher Metab Dis 21(Suppl 2):A122.
26. Morillas M, Gomez-Puertas P, Roca R, Serra D, Asins G, Valencia A, Hegardt FG. 2001. Structural model of the catalytic core of carnitine palmitoyltransferase I and carnitine octanoyltransferase (COT): mutation of CPT I histidine 473 and alanine 381 and COT alanine 238 impairs the catalytic activity. J Biol Chem 276:45001-45008.
27. Murthy MSR, Pande SV. 1987. 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 84:378-382.
28. North K, Hoppel CL, De Girolami U, Kozakewich H, Korson M. 1995. Lethal neonatal deficiency of carnitine palmitoyltransferase 2 associated with dysgenesis of the brain and kidneys. J Pediatr 127:414-420.
29. Taggart R, Smail D, Apolito C, Vladutiu GD. 1999. Novel mutations associated with carnitne palmitoyl transferase II deficiency. Hum Mutat 13:210-220.
30. Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, Di Donato S. 1992. Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. Proc Natl Acad Sci 89:8429-8433.
31. Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, Di Donato S. 1993. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet 4:314-320.
32. Taroni F, Gellera C, Cavadini P, Baratta S, Lamantea E, Dethlefs S, DiDonato S, Reik RA, Benke PJ. 1994. Lethal carnitine palmitoyltransferase (CPT) deficiency in newborns: a molecular genetic study (abstract). Am J Hum Genet 55:A245.
33. Tein I, Demaugre F, Bonnefont JP, Saudubray JM. 1989. Normal muscle CPTI and CPT II activities in hepatic-presentation patients with CPT I deficiency in fibroblasts. Tissue specific isoforms of CPT I? J Neurol Sci 92:229-245.
34. Thuillier L, Belbachir H, Royer-Legrain G, Attie-Bitach T, Driben A, Abadi N, Kamoun P, Saudubray JM, Munnich A, Bonnefont JP. 1999. Molecular prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency. Am J Hum Genet 65(Suppl)2442:A431.
35. Thuillier L, Sevin C, Demaugre F, Brivet M, Rabier D, Droin V, Aupetit J, Abadi N, Kamoun P, Saudubray JM, Bonnefont JP. 2000. Genotype/phenotype correlation in carnitine palmitoyltransferase II deficiency: lessons from a compound heterozygous patient. Neuromusc Disord 10:200-205.
36. Toscano A, Baratta S, Rodolico C, Aguennouz, Autunno M, Vita G, Messina C, Invemizzi F, Taroni F. 1996. Carnitine palmitoyltransferase II (CPT II) deficiency: occurrence of the adult-onset muscular phenotype in a family with the infanttype ARG631CYS CPT II mutation. J Neurol 243(Suppl 2):A159.
37. Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni E 1995. Carnitine palmitoyltransferase II deficiency: structure of the gene and characterisation of two novel disease-causing mutations. Hum Mol Genet 4:19-29.
38. Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira JI, Taroni F, Matsubara Y, Narisawa K. 1998. Two CPT 2 mutations in three Japanese patients with carnitine palmitoyltransferase 2 deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. Hum Mutat 11:377-386.
39. Woeltje KF, Esser V, Weis BC, Sen A, Cox WF, Schroeder JG, Liao ST, Foster DW, McGarry JD. 1990. Inter-tissue and inter-species characteristics of the mitochondrial carnitine palmitoyltransferase enzyme system. J Biol Chem 265:10714-10719.
40. Yamamoto S, Abe H, Kongo T, Ogawa A, Ohtake A, Hayashibe H, Sakuraba H, Suzuki Y, Aramaki S, Tagavanagi M, Hasegawa S, Niimi H. 1996. Two novel gene mutations (glu174-lys, phe383-tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency. Hum Genet 98:116-118.
41. Yamazaki N, Shinohara Y, Shima A, Yamanaka Y, Terada H. 1996. Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I. Biochim Biophys Acta 1307:157-161.
42. Yamazaki N, Yamanaka Y, Hashimoto Y, Shinohara Y, Shima A, Terada H. 1997. Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I. FEBS Lett 409:401-406.
43. Yang BZ, Ding JH, Roe D, Demaugre F, Brivet M, Roe CR. 1997. Carnitine palmitoyltransferase II deficiency: clinical forms and mutations. Proceeding, seventh international congress of inborn errors of metabolism, Vienna, May 21-25. Abstr P202.
44. Yang BZ, Ding JH, Roe D, Dewese T, Day DW, Roe CR. 1998a. A novel mutation identified in carnitine palmitoyltransferase II deficiency. Mol Genet Metab 63:110-115.
45. Yang BZ, Ding JH, Roe D, He G, Wilkinson J, Day DW, Demaugre F, Rabier D, Brivet M, Roe C. 1998b. Identification of four novel mutations in patients with carnitine palmitoyltransferase II deficiency. Mol Genet Metab 64:229-236.
46. Yao KW, Schulz H. 1996. Intermediate channeling on the trifunctional β-oxidation complex from pig heart mitochondria. J Biol Chem 271:17816-17820.
47. Zierz S. 1994. Carnitine palmitoyltransferase deficiency. In: Engel AG, Franzini-Armstrong C, editors. Myology, Second ed. New York: McGraw-Hill. p 1577-1586.