Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids

Molecular Genetics and Metabolism

Volumn 69, Issue 1, 2000, Pages 69-75

  Roe, Diane S ^a   Roe, Charles R ^a   Brivet, Michèle ^b   Sweetman, Lawrence ^a  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b BICÊTRE HOSPITAL   (France)

Author keywords

Branched chain amino acids; Carnitine acylcarnitine translocase; L carnitine; Tandem mass spectrometry

Indexed keywords

ACYLCARNITINE; BRANCHED CHAIN AMINO ACID; CARNITINE; CARRIER PROTEIN; DEUTERIUM;

AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; FATTY ACID OXIDATION; HUMAN; HUMAN CELL; HYPERAMMONEMIA; HYPOGLYCEMIA; MITOCHONDRIAL MEMBRANE; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY;

EID: 0033974931     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2950     Document Type: Article

References (24)

1. Pande S V, Murthy M SR. Carnitine-acylcarnitine translocase deficiency: Implications in human pathology. Biochim Biophys Acta. 1226:1994;269-276.
2. Indiveri C, Tonazzi A, Palmieri F. Identification and purification of the carnitine carrier from rat liver mitochondria. Biochim Biophys Acta. 1020:1990;81-86.
3. Viggiano L, Iacobazzi V, Marzella R, Cassano C, Rocchi M, Palmieri F. Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization. Cytogenet Cell Genet. 79:1997;62-63.
4. Huizing M, Iacobazzi V, Ijlst L, Savelkoul P, Ruitenbeek W, Vanden Heuvel L, Indiveri C, Smeitink J, Trijbels F, Wanders R J, Palmieri F. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am J Hum Genet. 61:1997;1239-1245.
5. Huizing M, Wendel U, Ruitenbeek W, Iacobazzi V, Ijlst L, Veenhuizen P, Savelkoul P, Van den Heuvel L, Smeitink J, Wanders R J, Trijbels F, Palmieri F. Carnitine-acylcarnitine carrier deficiency: Identification of the molecular defect in a patient. J Inherit Metab Dis. 21:1998;262-267.
6. Invernizzi E, Garavaglia B, Parini R, Dionisi C, Smith M, Huizing M, Palmieri F, Taroni F. Identification of the molecular defect in patients with carnitine-acylcarnitine carrier deficiency. J Inherit Metab Dis. 21:1998;59.
7. Costa C, Costa J M, Slama A, Boutron A, Saudubray J-M, Legrand A, Brivet M. Identification of the molecular defect in a severe case of carnitine acylcarnitine carrier deficiency. J Inherit Metab Dis. 21:1998;57.
8. Ijlst L, Ruiter J PN, Huizing M, Ruitenbeek W, Smeitink J, Trijbels F, Niezen-Koning K E, Oostheim W, Palmieri F, Wanders R JA. Molecular basis of carnitine acylcarnitine deficiency. J Inherit Metab Dis. 21:1998;56.
9. Stanley C A, Hale D E, Berry G T, DeLeeuw S, Boxer J, Bonnefont J P. A defiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med. 327:1992;19-23.
10. Pande S V, Brivet M, Slama A, Demaugre F, Aufrant C, Saudubray J-M. Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block. J Clin Invest. 91:1993;1247-1252.
11. Ogier de Baulny H, Slama A, Touti G, Turnbull D, Pourfarzam M, Brivet M. Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase. J Pediatr. 127:1995;723-728.
12. Niezen-Koning K E, VanSpronsen F J, Ijlst L, Wanders R J, Brivet M, Duran M, Reijngoud D J, Heymans H S, Smit G P. A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. J Inher Metab Dis. 18:1995;230-232.
13. Chalmers R A, Stanley C A, English N, Wigglesworth J S. Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr. 131:1997;220-225.
14. Dionisi-Vici C, Garavaglia B, Bartuli A, Invernizzi F, DiDonato S, Sabetta G, Kahler S G, Millington D S. Carnitine acylcarnitine translocase deficiency: Benign course without cardiac involvement. Pediatr Res. 37:1995;147A.
15. Morris A A, Olpin S E, Brivet M, Turnbull D M, Jones R A, Leonard J V. A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. J Pediatr. 132:1998;514-516.
16. Olpin S E, Bonham J R, Downing M, Manning N J, Pollitt R J, Sharrard M J, Tanner M S. Carnitine-acylcarnitine translocase deficiency - A mild phenotype. J Inher Metab Dis. 20:1997;714-715.
17. Al Aqeel A I, Rashed M, Wanders R J. Carnitine acylcarnitine translocase deficiency is a treatable disease. J Inherit Metab Dis. 21:1998;59.
18. Roe C R, Roe D S. Recent developments in the investigation of inherited metabolic disorders using cultured human cells. Mol Gen Metab. 68:1999;243-257.
19. Nuoffer J-M, Roe C R, Millington D S, Brivet M, Saudubray J-M. Familial neonatal SIDS revealing translocase deficiency, evaluation of preventative treatment by acylcarnitine. J Inherit Metab Dis. 21:1998;57.
20. Millington D S, Kodo N, Terada N, Roe D S, Chace D H. The analysis of diagnostic markers of genetic disorders in human blood and urine using tandem mass spectrometry with liquid secondary ion mass spectrometry. Int J Mass Spectrom Ion Processes. 111:1991;211-228.
21. Bradford M M. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem. 72:1976;248-254.
22. Roe C R, Coates P M. Mitochondrial fatty acid oxidation disorders. Scriver C R, Beaudet A L, Sly W S, Valle D. Metabolic and Molecular Basis of Inherited Disease. 1995;1501-1534 McGraw-Hill, New York.
23. Roe C R, Millington D S, Maltby D A, Kahler S G, Bohan T P. l-Carnitine therapy in isovaleric acidemia. J Clin Invest. 74:1984;2290-2295.
24. Chuang D T, Shih V E. Disorders of branched chain amino acid and keto acid metabolism. Scriver C R, Beaudet A L, Sly W S, Valle D. Metabolic and Molecular Basis of Inherited Disease. 1995;1239-1277 McGraw-Hill, New York.