A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient [2]

Clinical Genetics

Volumn 64, Issue 2, 2003, Pages 163-165

  Al Aqeel, Aida Imbrahim ^a   Rashid, M S ^b   Ruiter, J Pn ^b   Ijlst, L ^b   Ja Wanders, R ^b  

^a The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; AMMONIA; ARGININE; CARNITINE; CARNITINE ACYLTRANSFERASE; CARRIER PROTEIN; COMPLEMENTARY DNA; GLUCOSE; GLUTAMINE;

AMINO ACID SEQUENCE; BLOOD GAS; CARNITINE DEFICIENCY; CASE REPORT; DEATH; DIET THERAPY; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; ENZYME ACTIVITY; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED VISUAL RESPONSE; FATALITY; FEMALE; FIBROBLAST; GAS CHROMATOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; GENETICS; HEART ARRHYTHMIA; HEART VENTRICLE SEPTUM; HOMOZYGOSITY; HUMAN; HYPERAMMONEMIA; INFANT; LETTER; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; MITOCHONDRIAL RESPIRATION; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL DEFICIENCY; NYSTAGMUS; PERITONEAL DIALYSIS; PRIORITY JOURNAL; SAUDI ARABIA; SEQUENCE ALIGNMENT; TANDEM MASS SPECTROMETRY; TRANSPORT KINETICS;

AMINO ACID SEQUENCE; CARNITINE ACYLTRANSFERASES; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SAUDI ARABIA; SEQUENCE ALIGNMENT;

EID: 0042131673     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00117.x     Document Type: Letter

References (12)

1. Al Aqeel AI, Rashed MS, Wanders RJA. Carnitine acylcarnitine translocase deficiency is a treatable disease. J Inher Metab Dis 1999: 22: 271-275.
2. Ijlst L, van Roermund CWT, Iacobazzi V et al. Functional analysis of mutant human carnitine acylcarnitine translocases in yeast. Biochem Biophys Res Commun 2001: 280: 700-706.
3. 14C-labeled substrates in humans. J Clin Invest 1987: 79: 359-366.
4. Chalmers RA, Stanley CA, English N, Wigglesworth JS. Mitochondrial carnitine acylcarnitine translocase deficiency presenting as sudden neonatal death. Postmortem diagnosis, prenatal exclusion in subsequent pregnancies, and biochemical specificity of the mitochondrial translocase. J Pediatr 1997: 131: 220-225.
5. Treem WR, Stanley CA, Finegold DN, Hale DE, Coates PM. Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med 1988: 319: 1331-1336.
6. Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Lerous JP, Saudubray JM. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death: physiopathological approach to carnitine palmitoyltransferase II deficiences. J Clin Invest 1991: 87: 859-864.
7. Stanley CA, Hale DE, Berry GT, DeLeeuw S, Boxer J, Bonnefont JP. Brief report: a deficiency of carnitine acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med 1992: 327: 19-22.
8. Pande SV, Brivet M, Slama A, Demaugre F, Aufrant C, Saudubray JM. Carnitine acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. J Clin Invest 1993: 91: 1247-1252.
9. Niezen-Koning KE, van Spronsen FJ, Ijlst L et al. A patient with lethal cardiomyopathy and a carnitine acylcarnitine translocase deficiency. J Inher Metab Dis 1995: 18: 230-232.
10. Ogier de Baulny H, Slama A, Touati G, Turnbull DM, Pourfarzam M, Brivet M. Neonatal hyperammonemia caused by a defect of carnitine acylcarnitine translocase. J Pediatr 1995: 127: 723-727.
11. Indiveri C, Iacobazzi V, Giangregorio N, Palmieri F. The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins. Biochem J 1997: 321: 713-719.
12. Nelson DR, Felix CM, Swanson JM. Highly conserved charge-pair networks in the mitochondrial carrier family. J Mol Biol 1998: 277: 285-308.