Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: Insights on treatment

Journal of Inherited Metabolic Disease

Volumn 22, Issue 6, 1999, Pages 733-739

  Parini, R ^a   Invernizzi, F ^d   Menni, F ^a   Garavaglia, B ^d   Melotti, D ^b   Rimoldi, M ^d   Salera, S ^a   Tosetto, C ^c   Taroni, F ^d  

^a Clinica Pediatrica   (Italy)

^b Laboratorio Analisi Chimico Cliniche   (Italy)

^c ISTITUTI CLINICI DI PERFEZIONAMENTO   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; CARRIER PROTEIN; MEDIUM CHAIN TRIACYLGLYCEROL;

ARTICLE; CASE REPORT; DIET THERAPY; HUMAN; INFANT; LIPID DIET; LOADING TEST; MALE; PROTEIN DEFICIENCY;

3-HYDROXYBUTYRIC ACID; BLOOD GLUCOSE; CARNITINE ACYLTRANSFERASES; CELLS, CULTURED; DIET; FATTY ACIDS, NONESTERIFIED; FIBROBLASTS; HUMANS; INFANT, NEWBORN; MALE; OXIDATION-REDUCTION; PALMITIC ACID; PROGNOSIS; TRIGLYCERIDES;

EID: 0032772152     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005548201355     Document Type: Article

References (21)

1. Bergman AJIW, Donckerwolcke AMG, Duran M, et al (1994) Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. Pediatr Res 36: 582-588.
2. Brivet M, Slama A, Ogier H, et al (1994) Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. J Inker Metab Dis 17: 271-274.
3. Brivet M, Slama A, Millington DS, et al (1996) Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitines analysis in the proband Guthrie card and enzymatic studies in the parents. J Inker Metab Dis 19: 181-184.
4. Chalmers RA, Stanley CA, English N, Wigglesworth JS (1997) Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr 131: 220-225.
5. Corr PB, Creer MH, Yamada KA, Saffitz JE, Sobel BE (1989) Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation. J Clin Invest 83: 927-936.
6. Di Donate S, Cornelio F, Storchi G, et al (1979) Hepatic ketogenesis and muscle carnitine deficiency. Neurology 29: 780-785.
7. Dionisi Vici C, Garavaglia B, Bartuli A, et al (1995) Carnitine-acylcarnitine translocase deficiency: benign course without cardiac involvement. Pediatr Res 37: 147A.
8. Garavaglia B, Uziel G, Dworzak F, et al (1991) Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation. Neurology 41: 1691-1693.
9. Huizing M, lacobazzi V, Ijlst L, et al (1997) Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am J Hum Genet 61: 1239-1245.
10. Invernizzi F, Garavaglia B, Parmi R, et al (1998) Molecular characterization of mitochondrial carnitine-acylcarnitine translocase deficiency. Am J Hum Genet 63: A268.
11. McHowat J, Yamada KA, Saffitz JE, Corr PB (1993) Subcellular distribution of endogenous long chain acylcarnitines during hypoxia in adult canine myocytes. Cardiovasc Res 27: 1237-1243.
12. Morris AA, Olpin SE, Brivet M, Turnbull DM, Jones RA, Leonard JV (1998) A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. J Pediatr 132: 514-516.
13. Niezen-Koning J, Van Spronsen FJ, Ijlst, et al (1995) A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. J Inker Metab Dis 18: 230-232.
14. Olpin SE, Bonham JR, Downing M et al (1997) Carnitine-acylcarnitine translocase deficiency - a mild phenotype. J Inker Metab Dis 20: 714-715.
15. Pande SV, Brivet M, Slama A, Demaugre F, Aufrant C, Saudubray JM (1993) Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block. Translocase assay in permeabilized fibroblasts. J Clin Invest 91: 1247-1252.
16. Parmi R, Garavaglia B, Saudubray JM, et al (1991) Clinical diagnosis of long-chain acylcoenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests. J Pediatr 119: 77-80.
17. Parini R, Menni F, Garavaglia B, et al (1998) Acute, severe cardiomyopathy as main symptom of late-onset very-long-chain acyl-coenzyme A dehydrogenase deficiency. Eur J Pediatr 157: 992-995.
18. Schaefer J, Jackson S, Taroni F, Swift P, Turnbull DM (1997) Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy. J Neurol Neurosurg Psychiatry 62: 169-176.
19. Stanley CA (1995) Disorders of fatty acid oxidation. In: Fernandes J, Saudubray JM, Van den Berghe G, eds. Inborn Metabolic Diseases. Berlin: Springer Verlag, 133-143.
20. Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP (1992) Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N. Engl J Med 327: 19-22.
21. Stanley CA, Berry GT, Bennett MJ, Willi SM, Treem WR, Hale DE (1993) Renal handling of carnitine in secondary carnitine deficiency disorders. Pediatr Res 34: 89-97.