Carnitine-acylcarnitine translocase deficiency

American Journal of the Medical Sciences

Volumn 318, Issue 1, 1999, Pages 22-27

  Pande, Shri V ^a,b  

^a CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^b OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

Author keywords

Acylcarnitines; Cardiomyopathy; Fatty acid oxidation; Hyperammonemia; Hypoglycemia; Neonatal distress

Indexed keywords

ACYLCARNITINE; CARNITINE; CARRIER PROTEIN;

AUTOSOMAL RECESSIVE DISORDER; CARDIOMYOPATHY; CLINICAL FEATURE; CONFERENCE PAPER; DIET THERAPY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GENE MUTATION; HUMAN; HYPERAMMONEMIA; HYPOGLYCEMIA; LIVER DISEASE; MYOPATHY; PRENATAL DIAGNOSIS;

EID: 0033506956     PISSN: 00029629     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9629(15)40568-3     Document Type: Conference Paper

References (32)

1. Pande SV, Murthy MSR. Carnitine acylcarnitine translocase deficiency: implications in human pathology. Biochim Biophys Acta 1994;1226:269-76.
2. Chalmers RA, Stanley CA, English N, et al. Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death J Pediatr 1997;131:220-5.
3. Verhoeven NM, Roe DS, Kok RM, et al. Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts. J Lipid Res 1998;39:66-74.
4. Nalecz KA, Nalecz MJ. Carnitine - a known compound, a novel function in neural cells. Acta Neurobiol Exp (Warsz) 1996;56:597-609.
5. Murthy MSR, Pande SV. Malonyl-CoA-sensitive, and -insensitive carnitine palmitoyltransferase activities of microscomes are due to different proteins. J Biol Chem 1994; 269:18283-6.
6. Gooding JM, Saggerson ED. Uptake of carnitine and palmitoylcarnitine and CoA by rat liver microsomes [abstract] In: 4th Fatty Acid Oxidation and Ketogenesis Conference; 1998 Apr 3-6; Institute of Child Health, University College London Medical School, London, UK.
7. Pollitt RJ. Disorders of mitochondrial long-chain fatty acid oxidation. J Inherit Metab Dis 1995;18:473-90.
8. Niezenkoning KE, Vanspronsen FJ, Ijlst L, et al. A patient with lethal cardiomyopathy and a carnitine acylcarnitine translocase deficiency. J Inherit Metab Dis 1995;18: 230-2.
9. Dionsi-Vici C, Garavaglia B, Bartuli A, et al. Carnitine acylcarnitine translocase deficiency: benign course without cardiac involvement [abstract]. Pediatr Res 1995;37:147A.
10. Olpin SE, Bonham JR, Downing M, et al. Carnitine acylcarnitine translocase deficiency - a mild phenotype. J Inherit Metab Dis 1997;20:714-5.
11. Huizing M, Iacobazzi V, Ijlst L, et al. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am J Hum Genet 1997;61:1239-45.
12. Stanely, CA, Hale DE, Berry GT, et al. Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med 1992;327:19-23.
13. Ijlst L, Ruyter JPN, Huyzing M, et al. Molecular basis of carnitine-acylcarnitine deficiency [abstract]. In: 4th Fatty Acid Oxidation and Ketogenesis Conference; 1998 Apr 3-6; Institute of Child Health, University College London Medical School, London, UK.
14. Pande SV, Brivet M, Slama A, et al. Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. Clin Invest 1993;91:1247-52.
15. Pande SV, Parvin R. Carnitine acylcarnitine translocase catalyzes an unidirectional transport as well. J Biol Chem 1980;255:2994-3001.
16. Indiveri C, Tonazzi A, Palmieri F. Characterization of the unidirectional transport of carnitine catalyzed by the reconstituted carnitine acylcarnitine carrier from rat liver mitochondria. Biochim Biophys Acta 1980;1069:110-6.
17. Indiveri C, Iacobazzi V, Giangregorio N, et al. The mitochondrial carnitine carrier, cDNA cloning, primary structure and comparison with other mitochondrial transport proteins Biochem J 1997;321:713-9.
18. Kaminska J, Nalecz KA, Nalecz MJ. Mechanism of carnitine transport catalyzed by carnitine carrier from rat brain mitochondria. Acta Neurol Exp 1995;55:1-9.
19. Goni FM, Requero MA, Alonso A. Palmitoylcarnitine, a surface active metabolite. FEBS Lett 1996;390:1-5.
20. Pons R, De Vivo DC. Primary and secondary carnitine deficiency syndromes. J Child Neurol 1995;10(Suppl 2):S8-24.
21. Miyajima H, Orii KE, Shindo Y, et al. Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. Neurology 1997;49:833-7.
22. Murthy MSR, Pande, SV. Molecular biology of carnitine palmitoyltransferases and role of carnitine in gene transcription. In: DeSimone C, Famularo G, editors. Carnitine today. New York: Springer; 1997. p. 39-70.
23. Masuda M, Kobayashi K, Horiuchi M, et al. A novel gene suppressed in the ventricle of carnitine-deficient juvenile visceral steatosis mice. FEBS Lett 1997;408:221-4.
24. Indiveri C, Tonazzi A, Palmieri F. Identification and purification of the carnitine carrier from rat liver mitochondria. Biochim Biophys Acta 1990;1020:81-6.
25. Kaminskna J, Nalecz KA, Azzi A, et al. Purification of carnitine carrier from brain mitochondria. Biochem Mol Biol Int 1993;29:999-1007.
26. Wendel U, Huizing M, Iacobazzi V, et al. Carnitine acylcarnitine translocase deficiency: identification of the molecular defect in a patient [abstract] J Inherit Metab Dis 1997; 20(Suppl 1):45.
27. Ogier de Baulny H, Slama A, Touati G, et al. Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase. J Pediatr 1995;127:723-8.
28. Brivet M, Slama A, Millington DS, et al. Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. J Inherit Metab Dis 1996;19: 181-4.
29. Delolme F, Vianey-Saban C, Guffon N, et al. Study of plasma acylcarnitines using tandem mass spectrometry. Application to the diagnosis of metabolism hereditary diseases [article in French]. Arch Pediatr 1997;4:19-26.
30. Murthy MSR, Kamanna, VS, Pande, SV. A carnitine/ acylcarnitine translocase assay applicable to biopsied muscle specimens without requiring mitochondrial isolation. Biochem J 1986;236:143-8.
31. Brivet M, Slama A, Ogier H, et al. Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. J Inherit Metab Dis 1994;17:271-4.
32. Wanders RJA, Ruiter JPN, Ijlst L, et al. Mitochondrial carnitine/acylcarnitine translocase carrier deficiency: identification of new case using a simple assay plus successful prenatal diagnosis [abstract]. J Inherit Metab Dis 1997; 20(suppl):5.