Carnitine palmitoyltransferase deficiencies

Molecular Genetics and Metabolism

Volumn 68, Issue 4, 1999, Pages 424-440

  Bonnefont, Jean Paul ^a   Demaugre, France ^a   Prip Buus, Carina ^b   Saudubray, Jean Marie ^a   Brivet, Michèle ^c   Abadi, Nourredine ^a   Thuillier, Laure ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b CNRS   (France)

^c BICÊTRE HOSPITAL   (France)

Author keywords

Carnitine palmitoyltransferase 1; Carnitine palmitoyltransferase 2; Carnitine palmitoyltransferase deficiency; Fatty acid oxidation; Fatty acids; Hypoglycemia; Hypoketotic; Mitochondria

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; ISOENZYME;

BRAIN MALFORMATION; CLINICAL FEATURE; ENZYME DEFICIENCY; ENZYME LOCALIZATION; ENZYME SUBUNIT; EXERCISE; GENE MUTATION; HEART INJURY; HUMAN; HYPOGLYCEMIA; KIDNEY MALFORMATION; LOW FAT DIET; MITOCHONDRIAL RESPIRATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RHABDOMYOLYSIS; SEQUENCE ANALYSIS; SHORT SURVEY; TISSUE DISTRIBUTION;

EID: 0033387532     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2938     Document Type: Article

References (165)

1. McGarry JD, Brown NF. The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis. Eur J Biochem 244:1-14, 1997.
2. Demaugre F, Bonnefont JP, Cepanec C, Scholte J, Saudubray JM, Leroux JP. Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects. Pediatr Res 27:497-500, 1990.
3. Britton CH, Schultz RA, Zhang B, Esser V, Foster DW, McGarry JD. 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, 1995.
4. Yamazaki N, Shinohara Y, Shima A, Yamanaka Y, Terada H. Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I. Biochim Biophys Acta 1307:157-161, 1996.
5. Brivet M, Boutron A, Slama A, Costa C, Thuillier L, Demaugre F, Rabier D, Saudubray, Bonnefont JP. Defects in activation and transport of fatty acids. J Inher Metab Dis 22:428-441, 1999.
6. Fritz IB, Yue KTN. Long-chain carnitine acyltransferase and the role of acylcarnitine derivation in the catalytic increase of fatty acid oxidation induced by carnitine. J Lipid Res 4:279-288, 1963.
7. Pande SV. A mitochondrial carnitine acylcarnitine translocase system. Proc Natl Acad Sci USA 72:883-887, 1975.
8. 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 84:378-382, 1987.
9. Chen S, Ogawa A, Ohneda M, Unger RH, Foster DW, McGarry JD. More direct evidence for a malonyl-CoA-carnitine palmitoyltransferase I interaction as a key event in pancreatic β-cell signaling. Diabetes 43:878-883, 1994.
10. Nic A'Bhird N, Kumaravel G, Gandour RD, Krueger MJ, Ramsay RR. Comparison of the active sites of the purified carnitine acyltransferases from peroxisomes and mitochondria by using a reaction-intermediate analogue. Biochem J 294:645-651, 1993.
11. Murthy MSR, Pande SV. Malonyl-CoA sensitive and insensitive carnitine palmitoyltransferase activities of microsomes are due to different proteins. J Biol Chem 269: 18283-18286, 1994.
12. Woeltje KF, Esser V, Weis BC, Sen A, Cox WF, McPhaul MJ, Slaughter CA, Foster DW, McGarry JD. Cloning, sequencing and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II. J Biol Chem 265:10720-10725, 1990.
13. Finocchiaro G, Taroni F, Rocchi M, Liras Martin A, Colombo I, Torri Tarelli G, DiDonato S. cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci USA 88:661-665, 1991.
14. Esser V, Britton CH, Weis BC, Foster DW, McGarry JD. Cloning, sequencing and expression of a cDNA encoding rat liver carnitine palmitoyltransferase I: Direct evidence that a single polypeptide is involved in inhibitor interaction and catalytic function. J Biol Chem 268:5817-5822, 1993.
15. Yamazaki N, Shinohara Y, Shima A, Terada H. High expression of a novel carnitine palmitoyltransferase I-like protein in rat brown adipose tissue and heart: Isolation and characterization of its cDNA clone. FEBS Lett 363:41-45, 1995.
16. Kolodziej MP, Zammit VA. Mature carnitine palmitoyltransferase I retains the N-terminus of the nascent protein in rat liver. FEBS Lett 327:294-296, 1993.
17. Cohen I, Kohl C, McGarry JD, Girard J, Prip-Buus C. The N-terminal domain of rat liver carnitine palmitoyltransferase I mediates import into the outer mitochondrial membrane and is essential for activity and malonyl-CoA sensitivity. J Biol Chem 273:29896-29904, 1998.
18. Woeltje KF, Kuwajima M, Foster DW, McGarry JD. Characterization of the mitochondrial carnitine palmitoyltransferase enzyme system. II Use of detergents and antibodies. J Biol Chem 262:9822-9827, 1987.
19. McGarry JD, Leathermann GF, Foster DW. Carnitine palmitoyltransferase 1, the site of inhibition of hepatic fatty acid oxidation by malonyl-CoA. J Biol Chem 253: 4129-4136, 1978.
20. Brown NF, Ill JK, Esser V, Kickland JL, Corkey BE, Foster DW, McGarry JD. Mouse white adipocytes and 3T3-L1 cells display an anomalous pattern of carnitine palmitoyltransferase (CPT) I isoform expression during differentiation. Inter-tissue and inter-species expression of CPT I and CPT II enzymes. Biochem J 327:225-231, 1997.
21. Esser V, Brown NF, Cowan AT, Foster DW, Mc Garry JD. 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, 1996.
22. Brown NF, Weis BC, Husti JE, Foster DW, McGarry JD. Mitochondrial carnitine palmitoyl transferase I isoform switching in the developing rat heart. J Biol Chem 270: 8952-8957, 1995.
23. Demaugre F, Bonnefont JP, Mitchell G, Nguyen-Hoang N, Pelet A, Rimoldi M, DiDonato S, Saudubray JM. Hepatic and muscular presentations of carnitine palmitoyltransferase deficiency: Two distinct entities. Pediatr Res 24: 308-311, 1988.
24. Tein I, Demaugre F, Bonnefont JP, Saudubray JM. Normal muscle CPTI and CPT II activities in hepatic-presentation patients with CPTI deficiency in fibroblasts. Tissue specific isoforms of CPT I? J Neurol Sci 92:229-245, 1989.
25. Woeltje KF, Esser V, Weis BC, Sen A, Cox WF, Schroeder JG, Liao ST, Foster DW, McGarry JD. Inter-tissue and inter-species characteristics of the mitochondrial carnitine palmitoyltransferase enzyme system. J Biol Chem 265: 10714-10719, 1990.
26. Britton CH, Mackey DW, Esser V, Foster DW, Burns DK, Yarnall DP, Froguel P, McGarry JD. Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I. Genomics 40:209-211, 1997.
27. Gellera C, Verderio E, Floridia G, Finocchiaro G, Montermini L, Cavadini P, Zuffardi O, Taroni F. Assignment of the human carnitine palmitoyltransferase II gene (CPT I) to chromosome 1p32. Genomics 24:195-197, 1994.
28. Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F. Carnitine palmitoyltransferase II deficiency: Structure of the gene and characterisation of two novel disease-causing mutations. Hum Molec Genet 4:19-29, 1995.
29. Yamazaki N, Yamanaka Y, Hashimoto Y, Shinohara Y, Shima A, Terada H. Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I. FEBS Lett 409:401-406, 1997.
30. Thumelin S, Esser V, Chawy D, Kolodziej M, Zammit VA, McGarry JD, Girard J, Pegorier JP. Expression of liver carnitine palmitoyltransferase I and II genes during development in the rat. Biochem J 300:583-587, 1994.
31. Yu GS, Lu YC, Gulick T. Expression of novel isoforms of carnitine palmitoyltransferase I (CPT-I) generated by alternative splicing of the CPT-Ib gene. Biochem J 334:225-231, 1998.
32. Yu GS, Lu YC, Gulick T. Co-regulation of tissue-specific alternative human carnitine palmitoyltransferase I b gene promoters by fatty acid enzyme substrate. J Biol Chem 273:32901-32909, 1998.
33. Bougneres PF, Saudubray JM, Marsac C, Bernard O, Odièvre M, Girard J. Fasting hypoglycemia resulting from hepatic deficiency. J Pediatr 98:742-746, 1981.
34. Vianey-Saban C, Mousson B, Floret D, Bertrand C, Dumoulin R, Zabot MT, Divry P. Carnitine palmitoyltransferase 1 deficiency presenting as a Reye-like syndrome without hypoglycemia. Eur J Pediatr 152:334-338, 1993.
35. Gray RGF, Green A, Kelly DA, Pollitt RJ, Olpin S, Manning N, Bonnefont JP, Demaugre F. A case of carnitine palmitoyl transferase I deficiency. Proceedings, 2nd International Symposium on Clinical Biochemical and Molecular Aspects of Fatty Acid Oxidation (Abstr P34), Philadelphia, PA, November 3-6, 1991.
36. Bonnefont JP, Haas R, Wolff J, Thuy LP, Buchta R, Carroll JE, Saudubray JM, Demaugre F, Nyhan W. Deficiency of carnitine palmitoyltransferase I. J Child Neurol 4:197-202, 1989.
37. Stanley CA, Sunaryo F, Hale DE, Bonnefont JP, Demaugre F, Saudubray JM. Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase 1 deficiency. J Inher Metab Dis 15:785-789, 1992.
38. Haworth JC, Demaugre F, Booth FM, Dilling LA, Moroz SP, Seshia SS, Seargeant LE, Coates PM. Atypical features of the hepatic form of CPT deficiency in a Hutterite family. J Pediatr 121:553-557, 1992.
39. Falik-Borenstein ZC, Jordan SC, Saudubray JM, Brivet M, Demaugre F, Edmond J, Cederbaum SD. Renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency. N Engl J Med 327:24-27, 1992.
40. Yamamoto S, Abe H, Kanazawa M, Kohgo T, Takayanagi M, Ohtake A, Sakuraba H, Suzuki Y, Kakinuma H, Satoh Y, Maniwa S, Ohtahara S, Niimi H. Clinical, biochemical and molecular studies in fatty acid oxidation disorders (1): A Japanese case with carnitine palmitoyltransferase I deficiency presenting familial Reye-like episode. Proceedings, VI International Congress Inborn Errors of Metabolism, Milano, Italy, May 27-31, 1994.
41. Bergman AJIW, Donckerwolcke AMG, Duran M, Smeitink JAM, Mousson B, Vianey-Saban C, Poll-The BT. Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. Pediatr Res 5:582-588, 1994.
42. Schaefer J, Jackson S, Taroni F, Swift P, Turnbull DM. Caracterisation of carnitine palmitoyltransferases in patients with carnitine palmitoyltransferase deficiency: Implications for diagnosis and therapy. J Neurol Neurosurg Psychiat 62:169-176, 1997.
43. Innes AM, Seargeant LE, Balachandra K, Roe CR, Wanders RJA, Applegarth D, Casiro O, Grewar D, Friesen F, Greenberg CR. An expanding spectrum of metabolic disorders can cause acute fatty liver of pregnancy (AFLP), hemolysis, elevated liver enzymes and low platelets syndrome (HELLP), and hyperemesis gravidarum. Am J Hum Genet 61(Suppl):A1467, 1997.
44. IJlst L, Mandel H, Oostheim W, Ruiter JP, Gutman A, Wanders RJ. Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. J Clin Invest 102:527-531, 1998.
45. Di Mauro S, Di Mauro PM. Muscle carnitine palmitoyltransferase deficiency and myoglobinuria. Science 182:929-931, 1973.
46. Bank WJ, Di Mauro S, Bonilla E, Capuzzi DM, Rowland LF. A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase. N Engl J Med 292:443-449, 1975.
47. Cumming WJK, Hardy M, Hudgson P, Walls J. Carnitine palmityl transferase deficiency. J Neurol Sci 30:247-258, 1976.
48. Layzer RB, Havel RJ, Becker N, Ilroy MB. Muscle carnitine palmitoyl transferase deficiency: A case with diabetes and ketonuria (abstr). Neurology 27:379-380, 1977.
49. Herman J, Nadler ML. Recurrent myoglobinuria and muscle carnitine palmityl transferase deficiency. J Pediatr 91: 247-250, 1977.
50. Hostetler KY, Hoppel CL, Romine JS, Sipe JC, Gross SR, Hugginbottom PA. Partial deficiency of muscle carnitine palmitoyltransferase with normal ketone production. N Engl J Med 298:553-557, 1978.
51. Di Donato S, Cornelio F, Pacini L, Peluchetti D, Rimoldi M, Spreafico S. Muscle carnitine palmitoyltransferase deficiency: A case with enzyme deficiency in cultured fibroblasts. Ann Neurol 4:465-467, 1978.
52. Carroll JE, Brooke MM, De Vivo DC, Kaiser KK, Hadberg JM. Biochemical and physiologic consequences of carnitine palmitoyltransferase deficiency. Muscle Nerve 1:103-110, 1978.
53. Reza MJ, Kar NC, Pearson CM, Mark RAP. Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency. Ann Int Med 88:610-615, 1978.
54. Scholte HR, Jennekens FGI, Bouvy JJBJ. Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes. J Neural Sci 40:39-51, 1979.
55. Brownell AKW, Severson DL, Thompson CD, Fletcher T. Cold induced rhabdomyolysis in carnitine palmitoyltransferase deficiency. Can J Neurol Sci 6:367-370, 1979.
56. Patten BM, Wood JM, Harati Y, Heferaw P, Howell RR. Familial recurrent rhabdomyolysis due to carnitine palmitoyltransferase deficiency. Am J Med 67:167-171, 1979.
57. Iosanescu V, Hug G, Hoppel C. Combined partial deficiency of muscle carnitine palmitoyl transferase and carnitine with autosomal dominant inheritance. J Neurol Neurosurg Psychiat 43:679-682, 1980.
58. Averianov IUN, Aleksandrovskaia TN, Kalnova LI, Morozava BA, Smaldaeva VV. Narushemie lipidnago obmena v skeletenoi muskulature (nedostato-chnost karnitin palmitil transferazy) i parcksizmalnaia mioglobinuria. Zh Neuropat Bikiat 80:1623, 1980.
59. Layzer RB, Havel RJ, Mc Ilroy MB. Partial deficiency of carnitine palmityltransferase: Physiologic and biochemical consequences. Neurology 30:627-633, 1980.
60. Hostetler KY, Yazaki PJ. Deficiency of carnitine palmitoyltransferase in transformed lymphoblasts from a patient having a deficiency of carnitine palmitoyltransferase in skeletal muscle. Biochem Biophys Res Commun 94:270-277, 1980.
61. Bertorini T, Yem YY, Trevisan C, Stadlan E, Sabesin S, Di Mauro S. Carnitine palmityltransferase deficiency: Myoglobinuria and respiratory failure. Neurology (NY) 30:263-271, 1980.
62. Di Donato S, Castiglione A, Rimoldi M, Cornelio F, Vendemia F, Gardace G, Bertagnolio B. Heterogeneity of carnitine palmitoyltransferase deficiency. J Neurol Sci 50: 207-215, 1981.
63. Tafuri A, Della Volpe M, Iberti M, Verones GV. Insufficienza renale acuta da rabdomiolise per deficit di carnitin palmitil transferase (CPT). Nin Neph 28:497-502, 1981.
64. Pula TP, Max SR, Zielke HR, Chacon M, Baab P, Gumbinas M, Reed ND. Selective carnitine palmitoyltransferase deficiency in fibroblasts from a patient with muscle CPT deficiency. Ann Neurol 10:196-198, 1981.
65. Angelini C, Freddo L, Battistella P, Bresolin N, Pierobon-Normioli IS, Armani M, Bergani L. Carnitine palmityltransferase deficiency: Clinical variability, carrier detection and autosomal recessive inheritance. Neurology (NY) 31:883-886, 1981.
66. Layzer RB. Measurement of carnitine palmitoyl transferase I and II (Letter to the Ed). Neurology (NY) 31:361-362, 1981.
67. Meunier J, Perrot D, Bret M, Pissere Meunier J, Bouletraeu P, Pasquier J, Carrier H, Bertmulier G. Myoglobinurie paroxistique rédicivante avec insuffisance rénale aigüe secondaire à un déficit en carnitine palmityltrans̈ ferase musculaire. Nouv Presse Med 11:2767-2771, 1982.
68. Sugiyama N, Wada K, Morishita H, Nonaka I. Different ketogenic response to medium-chain triglycerides and to long-chain triglycerides in a case of muscular carnitine palmitoyltransferase deficiency. J Inher Metab Dis 5:233-234, 1982.
69. Blanc PL, Carrier H, Thomas L, Chavaillon JM, Robert D. Acute rhabdomyolysis with carnitine palmityltransferase deficiency. Intens Care Med 8:307, 1982.
70. Rumpf KW, Kaiser H, Goebel HM, Wagner MA, Ullmann B, Di Mauro S, Scheler F. Muskulärer carnitin-palmityltransferase mangel. Dtsch Med Wschr 108:1038-1061, 1983.
71. Wernek LC, De Almeida Boer CA. Miopatia por deficiencia de carnitina palmitiltransferase. Arqu Neuropsiquiatria (Sao Paulo) 41:377, 1983.
72. Argov Z, Di Mauro S. Recurrent exertional myalgia and myoglobinuria due to carnitine palmityltransferase deficiency. Isr J Med Sci 19:552-554, 1983.
73. Trevisan CP, Angelini C, Freddo L, Isaya G, Martinuzzi A. Myoglobinuria and carnitine palmitoyltransferase (CPT) deficiency studies with malonyl-CoA suggest absence of only CPT II. Neurology (Cleveland) 34:353-356, 1984.
74. Martin JJ, De Barsy T, Mercelis R. Carnitine palmityltransferase deficiency. Act Neurol Belg 84:155-156, 1984.
75. Zierz S, Engel AG. Regulatory properties of a mutant carnitine palmitoyl transferase in human skeletal muscle. Eur J Biochem 149:207-214, 1985.
76. Jerusalem F, Engel AG, Marti HR, Zierz A. Carnitine palmityltransferase (CPT)-Mangel. Bericht über zwei weibliche fälle. Aktuelle Neurol 12:81-84, 1985.
77. Heier MS, Dietrichson P, Landaas S. Familial combined deficiency of muscle carnitine and carnitine palmityltransferase (CPT). Acta Neurol Scand 74:479-485, 1986.
78. Trevisan CP, Angelini C, Fiorellini LA. Malonyl-CoA abnormal inhibition of residual enzyme activity in carnitine palmitoyltransferase deficiency. Eur Neurol 25:309-314, 1986.
79. Carey MP, Poulton JK, Hawkins C, Murphy RP. Carnitine palmitoyltransferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities. J Neurol Neurosurg Psychiat 50:1060-1062, 1987.
80. Roos NS, Hoppel CL. Partial muscle carnitine palmitoyltransferase-A deficiency: Rhabdomyolysis associated with transiently decreased muscle carnitine content after ibuprofen therapy. J Am Med Assoc 257:62-66, 1987.
81. Moses GC, Henderson AR. Increased serum lactate dehydrogenase isoenzyme 1 and "flipped" LD-1/LD-2 ratio in myopathy associated with partial carnitine palmitoyltransferase deficiency. Clin Chem 33:2111-2115, 1987.
82. Trevisan CP, Isaya G, Angelini C. Exercise-induced recurrent myoglobinuria: Defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients. Neurology 37:1184-1188, 1987.
83. Weber M, Goebel HH, Wandel E. Rhabdomyolyse durch carnitin palmityltransferase-mangel. Med Klin 82:297-299, 1987.
84. Gieron MA, Korthals JK. Carnitine palmitoyltransferase deficiency with permanent weakness. Pediatr Neurol 3:51-54, 1987.
85. Meola G, Bresolin N, Rimoldi M, Velicogna M, Fortunato F, Scarlato G. Recessive carnitine palmityltransferase deficiency: Biochemical studies in tissue cultures and platelets. J Neurol 235:74-79, 1987.
86. Dupond JL, Mousson B, Guerber F, Humbert Ph, Maire I, Gibey R. Rhabdomyolyse recidivante et deficit en carnitine palmityltransférase. Presse Med 17:2187-2190, 1988.
87. Reuschenbach C, Zierz S. Mutant carnitine palmitoyltransferase deficiency associated with myoadenilate deaminase deficiency in skeletal muscle. J Pediatr 112:600-604, 1988.
88. Bye AME, Kan ARE. Cramps following exercise. Aust Paediatr 24:258-260, 1988.
89. Singh R, Shepherd IM, Derrick JP, Ramsay RR, Sherratt HSA, Turnbull DM. A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle. FEBS Lett 241:126-130, 1988.
90. Katsuya H, Misumi M, Ohtani Y, Miike T. Postanesthetic acute renal failure due to carnitine palmityltransferase deficiency. Anesthesiology 68:945-948, 1988.
91. Galdi AP, Clark JB. An unusual case of carnitine palmitoyltransferase deficiency. Arch Neurol 46:819-820, 1989.
92. Kieval RI, Sotrel A, Weinblatt ME. Chronic myopathy with a partial deficiency of the carnitine palmitoyltransferase enzyme. Arch Neurol 46:575-578, 1989.
93. Kelly KS, Garland JS, Targ TT, Shug AL, Chusid MJ. Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmityltransferase deficiency. Pediatrics 84:312-316, 1989.
94. Sadeh M, Gutman A. Carnitine palmitoyltransferase deficiency: A common cause of recurrent myoglobinuria. Isr J Med Sci 26:510-515, 1990.
95. Schroder JP, Mau W, Schumacher S, Zierz S. Abnorme regulation der carnitine palmitoyltransferase bei eineiigen zwillingen als ursache einer rhabdomyolyse. Dtsch Med Wochenschr 115:337-341, 1990.
96. Suzuki H, Hirayama Y, Hirano S, Takahashi R, Nonaka I, Sugie H, Sugiyama N. Carnitine palmitoyltransferase deficiency in a patient with severe psychomotor retardation. No To Hattatsu 23:93-97, 1991.
97. Mongini T, Doriguzzi C, Palmucci L, Chiado-Piat L, Maniscalco M, Schiffer D. Myoglobinuria and carnitine palmitoyltransferase deficiency in father and son. J Neurol 238:323-324, 1991.
98. Vladutiu GD, Saponara I, Conroy JM, Grier RE, Brady L, Brady P. Immunoquantitation of carnitine pamitoyltransferase in skeletal muscle of 31 patients. Neuromusc Disord 2:249-259, 1992.
99. Schiffmann R, Lahat E, Schechter A. Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency. Neuromusc Disord 2:285-288, 1992.
100. Vladutiu GD, Hogan K, Saponara I, Tassini L, Conroy J. Carnitine palmitoyltransferase deficiency in malignant hyperthermia. Muscle Nerve 16:485-491, 1993.
101. Joutel A, Moulonguet A, Demaugre F, Janowski M, Lacroix-Jousselin C, Said G. Type II carnitine palmitoyltransferase deficiency complicated by acute respiratory failure. Rev Neurol 149:797-799, 1993.
102. Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, Di Donato S. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nature Genet 4:314-320, 1993.
103. Berkman N, Meirow D, Katzir Z, Bar-On H. Acute renal failure due to carnitine palmitoyltransferase deficiency. J Int Med 233:295-297, 1993.
104. Tein I, Christodoulou J, Donner E, Mc Innes RR. Carnitine palmitoyltransferase II deficiency: A new cause of recurrent pancreatitis. J Pediatr 124:938-940, 1994.
105. Dreval D, Bernstein D, Zakut H. Carnitine palmitoyltransferase deficiency in pregnancy. A case report. Am J Obstet Gynecol 170:1390-1392, 1994.
106. Ohtani Y, Tomoda A, Miike T, Matsukura M, Miyatake M, Narazaki O. Central nervous system disorders and possible brain type carnitine palmitoyltransferase II deficiency. Brain Dev 16:139-145, 1994.
107. Stavem K, Bjerke G, Skullerud K, Bohmer T. Rhabdomyolysis in carnitine palmitoyltransferase deficiency. Tidsskr Nor Laegeforen 114:2398-2399, 1994.
108. Tsurui S, Sugie H, Ito M, Igarashi Y. Clinical and biochemical analysis of 27 patients with myoglobinuria of unknown causes. Rinsho Shinkeigaku 35:24-28, 1995.
109. Shintani S, Shiigai T, Sugiyama N. Atypical presentation of carnitine palmitoyltransferase deficiency as status epilepticus. J Neurol Sci 129:69-73, 1995.
110. Faigel HC. Carnitine palmitoyltransferase deficiency in a college athlete: A case report and literature review. J Am Coll Health 44:51-54, 1995.
111. Katzir Z, Hochman B, Biro A, Rubinger DI, Feigel D, Silver J, Friedlaender MM, Popovtzer MM, Smetana S. Carnitine palmitoyltransferase deficiency: An underdiagnosed condition? Am J Nephrol 16:162-166, 1996.
112. Villard J, Fischer A, Mandon G, Collombet JM, Taroni F, Mousson B. Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: Expression of the molecular phenotype in cultured muscle cells. J Neurol Sci 136:178-181, 1996.
113. Handig I, Dams E, Taroni F, Van Laere S, de Barsy T, Willems PJ. Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency. Hum Genet 97:291-293, 1996.
114. Carrasco Marina LL, Ramos Lizana J, Vazquez Lopez M, Garrote de Marcos JM, Arregui Sierra A, Bornstein B, Arenas J. Recurrent myoglobinuria in a girl due to carnitine palmitoyltransferase deficiency. An Esp Pediatr 44: 67-69, 1996.
115. Kaufmann P, El-Schahawi M, DiMauro S. Carnitine palmitoyltransferase II deficiency: Diagnosis by molecular analysis of blood. Mol Cell Biochem 174:237-239, 1997.
116. Wieser T, Deschauer M, Zierz S. Carnitine palmitoyltransferase 2 deficiency: Three novel mutations. Ann Neurol 42:414, 1997.
117. Keverline JP. Recurrent rhabdomyolysis associated with influenza-like illness in a weight-lifter. J Sports Med Phys Fitness 38:177-179, 1998.
118. Yang BZ, Ding JH, Roe D, Dewese T, Day DW, Roe CR. A novel mutation identified in carnitine palmitoyltransferase II deficiency. Mol Genet Metab 63:110-115, 1998.
119. Normand J, Carrier H, Berthillier G, Bozio A, Monrozier D, Andre M, Joffre B. Myocardiopathie primitive de l'enfant avec surcharge lipidique des fibres myocardiques et musculaires et mise en évidence d'un déficit en enzyme palmityl carnitine transferase. Arch Mal Coeur 5:529-535, 1979.
120. Sacrez A, Porte A, Mindelang C, Bieth R, Merian B. Myocardiopathie avec surcharge lipidique et déficit en palmityl carnitine transférase (PCT) leucocytaire. Arch Mal Coeur 12:1371-1379, 1982.
121. Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Leroux JP, Saudubray JM. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87: 859-864, 1991.
122. Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, Di Donato S. Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. Proc Natl Acad Sci USA 89:8429-8433, 1992.
123. Elpeleg ON, Joseph A, Branski D, Christensen E, Holme E, Demaugre F, Saudubray JM, Gutman A. Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. J Pediatr 122:917-919, 1993.
124. Vianey-Saban C, Stremler N, Paul O, Buttin T, Divry P, Zabot MT, Camboulives J, Mathieu M, Mousson B. Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset. J Inher Metab Dis 18:362-363, 1995.
125. Yamamoto S, Abe H, Kongo T, Ogawa A, Ohtake A, Hayashibe H, Sakuraba H, Suzuki Y, Aramaki S, Tagavanagi M, Hasegawa S, Niimi H. Two novel gene mutations (glu174-lys, phe383-tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency. Hum Genet 98: 116-118, 1996.
126. Fontaine M, Briand G, Largillière C, Degand P, Divry P, Vianey-Saban C, Mousson B, Vamecq J. Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency. Clin Chim Acta 273:161-170, 1998.
127. Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K. Two CPT II mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes. Hum Mutat 11:377-386, 1998.
128. Yang BZ, Ding JH, Roe D, He G, Wilkinson J, Day DW, Demaugre F, Rabier D, Brivet M, Roe C. Identification of four novel mutations in patients with carnitine palmitoyltransferase II deficiency. Mol Genet Metab 64:229-236, 1998.
129. Martinez G, Ribes A, Garavaglia B, Invernizzi F, Campistol J, Vila C, Briones P, Rodes M, Vilaseca MA, Millington DS, Baratta S, Taroni F. Favourable clinical evolution in a 20-year old girl with the infantile form of carnitine palmitoyltransferase II deficiency. Proceedings, 7th International Congress of Inborn Errors of Metabolism (Abstr O101), Vienna, May 21-25, 1997.
130. Merinero B, Castro M, Gangoiti J, Martin MA, Perez-Cerda C, Alonso F, Duran M, Arenas J, Ugarte M. Carnitine palmitoyltransferase II deficiency with infantile presentation: Biochemical and genetic analysis. J Inher Metab Dis 21(Suppl 2):A122, 1998.
131. Hug G, Bove KE, Soukup S. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 325:1862-1864, 1991.
132. Witt DR, Theobald M, Santa-Maria M, Packman S, Townsend S, Sweetman L, Goodman S, Rhead W, Hoppel CL. Carnitine palmitoyltransferase-type 2 deficiency. Two new cases and successful prenatal diagnosis. Am J Hum Genet 49(Suppl 4):109, 1991.
133. Zinn AB, Zurcher VL, Kraus F. Carnitine palmitoyltransferase B deficiency: A heritable cause of neonatal cardiomyopathy and dysgenesis of the kidney. Pediatr Res 29: 73A, 1991.
134. Takayanagi M, Ohtake A, Yamamoto S, Kakinuma H, Satoh Y, Abe H, Kanazawa M, Kohgo T, Niimi H, Sakuraba H, Suzuki Y, Aramaki S, Yoshino S, Kato H. Clinical, biochemical and molecular studies of fatty acid oxidation disorders (2): Two Japanese cases with infantile form of carnitine palmitoyltransferase II deficiency. Proceedings, IV International Congress on Inborn Errors of Metabolism, Milano, Italy, May 27-31, 1994.
135. Gellera C, Benke PJ, Cavadini P, Dethlefs S, Baratta S, Garavaglia B, DiDonato S, Taroni F. Lethal carnitine palmitoyltransferase II deficiency in newborns. A molecular-genetic study. In New Development in Fatty Acid Oxidation (Coates PM, Tanaka K, Eds). New York: Wiley-Liss, pp 301-308, 1992.
136. Taroni F, Gellera C, Cavadini P, Baratta S, Lamantea E, Dethlefs S, DiDonato S, Reik RA, Benke PJ. Lethal carnitine palmitoyltransferase (CPT) deficiency in newborns: A molecular genetic study (Abstr). Am JHum Genet 55:A245, 1994.
137. North K, Hoppel CL, De Girolami U, Kozakewich H, Korson M. Lethal neonatal deficiency of carnitine palmitoyltransferase 2 associated with dysgenesis of the brain and kidneys. J Pediatr 127:414-420, 1995.
138. Pierce MR, Pridjian G, Morrison S, Pickoff AS. Fatal carnitine palmitoyltransferase II deficiency in a newborn: New phenotypic features. Clin Pediatr 38:13-20, 1999.
139. Land JM, Mistry S, Squier M, Hope P, Ghadiminejad I, Orford M, Saggerson D. Neonatal carnitine palmitoyltransferase 2 deficiency: A case presenting with myopathy. Neuromusc Disord 5:129-137, 1995.
140. Smeitink J, Scholte J, Duran R, Wendel U, Costa C, Ruitenbeek W, Wanders RG, Rubio-Gozalbo E, Sengers R, Trijbels F, Van den Heuvel B. Treatment and molecular analysis of neonatal carnitine palmitoyltransferase II deficiency. J Inher Metab Dis 21(Suppl 2):O2, 1998.
141. Gellera C, Witt DR, Verderio E, Cavadini P, DiDonato S, Taroni F. Molecular study of lethal neonatal carnitine palmitoyltransferase II (CPT II) deficiency. Am J Hum Genet 51:A168, 1992.
142. Freerman FE, Goodman SI. Nuclear encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II. In The Metabolic and Molecular Bases of Inherited Disease, 7th ed. (Scriver CR, Beaudet AL, Sly WS, Valle D, Eds.). New-York, McGraw-Hill, pp 1611-1631, 1995.
143. Corr PB, Creer MH, Yamada JE, Saffitz JE, Sobel BE. Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation. J Clin Invest 83:227-236, 1989.
144. Slama A, Brivet M, Boutron A, Legrand A, Saudubray JM, Demaugre F. Complementation analysis of carnitine palmitoyltransferase I and II defects. Pediatr Res 40:542-546, 1996.
145. Nada H, Rhead W, Sprecher H, Schulz H, Roe CR. Evidence for intermediate channeling in mitochondrial β-oxidation. J Biol Chem 270:530-535, 1995.
146. Millington DS, Terada N, Chace DH, Chen YT, Ding JH, Kodo N, Roe CR. The role of tandem-mass spectrometry in the diagnosis of acid oxidation disorders. Prog Clin Biol Res 375:339-354, 1992.
147. Bremer J. Carnitine in intermediary metabolism. The biosynthesis of palmitoylcarnitine by cell subfractions. J Biol Chem 238:2774-2779, 1963.
148. Yates DW, Garland PB. Carnitine palmitoyl transferase activities of rat liver mitochondria. Biochem J 119:547-552, 1970.
149. Bieber LL, Abraham T, Helmrat MT. A rapid spectrophotometric assay for carnitine palmitoyltransferase. Anal Biochem 50:509-518, 1972.
150. Fritz IB, Schultz SK, Srere PA. Properties of partially purified carnitine acetyltransferase. J Biol Chem 238:2509-2517, 1963.
151. Fritz IB, Marquis NMI. The role of acylcarnitine esters and carnitine palmitoyltransferase in the transport of fatty acyl groups accross mitochondrial membranes. Proc Natl Acad Sci USA 54:1226-1233, 1985.
152. Bieber LL, Farrell S. Carnitine acyltransferases. In The Enzymes (Boyer PD, Ed). New York: Academic Press, Vol 16, pp 627-644, 1983.
153. Kopec B, Fritz IB. Properties of a purified carnitine palmitoyltransferase and evidence for the existence of other carnitine acyltransferases. Com J Biochem 49:941, 1971.
154. Crabtree B, Newsholme EA. The activities of lipases and carnitine palmitoyltransferase in muscles from vertebrates and invertebrates. Biochem J 130:697-705, 1972.
155. Norum KR. Palmitoyl CoA-carnitine palmityl transferase purification from calf liver mitochondria and some properties of the enzyme. Biochem Biophys Acta 89:95-108, 1964.
156. Abadi N, Thuillier L, Prasad C, Belbachir H, Demaugre F, Prip-Buus C, Brivet M, Khadom N, Bonnefont JP. Molecular resolution of carnitine palmitoyltransferase I deficiency in a Hutterite family. Proceedings, 49th Annual Meeting of the American Society of Human Genetics (abstr), San Francisco, October 19-26, 1999.
157. Brown NF, Anderson RC, Caplan SL, Foster DW, McGarry JD. Catalytically important domains of rat carnitine palmitoyltransferase II as determined by site-directed mutagenesis and chemical modification: Evidence for a critical histidine residue. J Biol Chem 269:19157-19162, 1994.
158. Taggart R, Smail D, Apolito C, Vladutiu GD. Novel mutations associated with carnitine palmitoyl transferase II deficiency. Hum Mutat 13:210-220, 1999.
159. Bonnefont JP, Taroni F, Cavadini P, Cepanec C, Brivet M, Saudubray JM, Leroux JP, Demaugre F. Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. Am J Hum Genet 58: 971-978, 1996.
160. Toscano A, Baratta S, Rodolico C, Aguennouz, Autunno M, Vita G, Messina C, Invernizzi F, Taroni F. Carnitine palmitoyltransferase II (CPT II) deficiency: Occurrence of the adult-onset muscular phenotype in a family with the infant-type ARG631CYS CPT II mutation. J Neurol 243(Suppl 2):A159, 1996.
161. Yang BZ, Ding JH, Roe D, Demaugre F, Brivet M, Roe C. Carnitine palmitoyltransferase II deficiency: Clinical forms and mutations. Proceedings,
162. Verderio E, Cavadini P, Pandolfo M, DiDonato S, Taroni F. Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT 1) gene. Hum Mol Genet 2:334-335, 1993.
163. Thuillier L, Sevin C, Demaugre F, Brivet M, Rabier D, Droin V, Aupetit J, Abadi N, Kamoun P, Saudubray JM, Bonnefont JP. Genotype/phenotype correlation in carnitine palmitoyltransferase II deficiency: Lessons from a compound heterozygous patient. Neuromusc Disord, in press.
164. Thuillier L, Belbachir H, Royer-Legrain G, Attie-Bitach T, Driben A, Abadi N, Kamoun P, Saudubray JM, Munnich A, Bonnefont JP. Molecular prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency. Proceedings, 49th Annual Meeting of the American Society of Human Genetics (Abstr), San Francisco, October 19-26, 1999.
165. Saudubray JM, Martin D, De Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron A, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M. Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inher Metab Dis 22:488-502, 1999.