Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency

European Journal of Pediatrics

Volumn 159, Issue 1-2, 2000, Pages 82-85

  Nuoffer, J M ^a,e   De Lonlay, P ^a   Saudubray, J M ^a   Costa, C ^b   Brivet, M ^b   Roe, C R ^c   Chamoles, N ^d  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b BICÊTRE HOSPITAL   (France)

^c BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^d Enfermedades Neurometabolicas   (Argentina)

^e University Childrens Hospital   (Switzerland)

Author keywords

Beta oxidation; Carnitine; Diet; Long chain fatty acids; Medium chain fatty acids

Indexed keywords

ACYLCARNITINE; CARNITINE; CARRIER PROTEIN; GLUCOSE; INSULIN; LONG CHAIN FATTY ACID; MEDIUM CHAIN FATTY ACID;

ARTICLE; CARNITINE DEFICIENCY; CASE REPORT; CLINICAL FEATURE; DIET THERAPY; DISEASE COURSE; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; HUMAN; INFANT; LIPOLYSIS; PHENOTYPE; PRIORITY JOURNAL; SUDDEN INFANT DEATH SYNDROME;

EID: 0033999659     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00013810     Document Type: Article

References (20)

1. 1. Boles RG, Buck EA, Blitzer MG, Platt MS, Covan TM, Martin SK, Yoon H, Madsen JA, Reyes-Mugica M, Rinaldo M (1998) Retrospective biochemical screening of fatty acid oxidation in postmortem livers of 418 cases of sudden death in the first year. J Pediatr 132:924-933
2. 2. Bougneres PF, Karl IE, Hillmann LS, Bier DM (1982) Lipid transport in the human newborn. Palmitate and glycerol turnover and the contribution of glycerol to neonate hepatic glucose output. J Clin Invest 70(2):262-270
3. 3. Brivet M, Slama A, Millington DS, Roe CR, Demaugre F, Legrand A, Bouton A, Poggi F, Saudubray JM (1996) Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by analysis in the proband Guthrie card and enzymatic studies in the parents. J Inher Metab Dis 19:181-184
4. 4. Brivet M, Slama A, Ogier H, Bouton A, Demaugre F, Saudubray JM, Lemonnier A (1994) Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. J Inher Metab Dis 17:271-274
5. 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. 6. Chalmers RA, Stanley CA, English N, Wigglesworth JS (1997) Mitochondrial carnitine acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr 131:220-225
7. 7. Corr PB, Creer MH, Yamada KA, Safitz JE, Sobel BE (1989) Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation. J Clin Invest 83:927-936
8. 8. Costa C, Costa JM, Nuoffer J-M, Slama A, Boutron A, Saudubray JM, Legrand A, Brivet M (1999) Identification of the molecular defect in a severe case of carnitine acylcarnitine carrier deficiency. J Inher Metab Dis 22:267-270
9. 9. Dionisi Vici C, Garavaglia B, Bartuli A (1995) Carnitine acylcarnitine translocase deficiency: benign course without cardiac involvement. Ped Res 37 abstract 869
10. 10. Madden MC, Wolkowicz PE, Pohost CM, McMillin JB, Pike MM (1995) Acylcarnitine accumulation does not correlate with reperfusion recovery in palmitate-perfused rat hearts. Am J Physiol 268:pH2505-2512
11. 11. Millington DS, Kodo N, Norwood DL, Roe CR (1991) Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for screening for inborn errors of metabolism. J Inner Metab Dis 13:321-324
12. 12. Morris AAM, Olpin SE, Brivet M, Turnbull DM, Jones RAK, Leonard JV (1998) A patient with mild carnitine-acylcarnitine translocase deficiency with a mild phenotype. J Pediatr 132:514-516
13. 13. Niezen-Koning J, Van Spronsen FJ. Ijlist L, Wanders RJ, Brivet M, Duran M, Reijngoud DJ, Heymans HS, Smit GP (1995) A patient with lethal cardiomyopathy and a of carnitine acylcarnitine translocase deficiency. J Inher Metab Dis 18:230-f232
14. 14. Olpin SE, Bonham JR, Downing M, Manning NJ, Pollit RJ, Sharrard MJ, Tanner MS (1997) Carnitine-acylcarnitine translocase deficiency a mild phenotype. J Inher Metab Dis 20:714-715
15. 15. Pande SV, Brivet M, Slama A, Demaugre F, Aufrant C, Saudubray JM (1993) Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. J Clin Invest 91(1):1247-1252
16. 16. Roe CR, Millington DS, Maltby DA, Bohan TP, Kahler SG, Chalmers RA (1985) Diagnostic and therapeutic implications of medium chain acylcarnitines in medium chain acyl coA dehydrogenase deficiency. Pediatr Res 19(5):459-466
17. 17. Stanley CA (1995) Disorders of fatty acid oxidation. In: Femandes J, Saudubray JM, van den Berghe G (eds) Inborn Metabolic Diseases Diagnosis and therapy. Springer Verlag, Berlin, pp 133-143
18. 18. Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP (1992) A deficiency of carnitine-acylcarnitine Translocase in the inner mitochondrial membrane. N Engl J Med 372:19-23
19. 19. Waku K (1992) Origins and fates of fatty acyl CoA esters. Biochem Biophys Acta 1124:101-111
20. 20. Willinger M, James LS, Catz C (1991) Defining the sudden infant death syndrome (SIDS): deliberation of an expert panel convened by the National Institute of Child Health and Human Development. J Pediatr 124:677-684