Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

Journal of Inherited Metabolic Disease

Volumn 19, Issue 2, 1996, Pages 181-184

  Brivet, M ^a   Slama, A ^a   Millington, D S ^c   Roe, C R ^c   Demaugre, F ^b   Legrand, A ^a   Boutron, A ^a   Poggi, F ^b   Saudubray, J M ^b  

^a BICÊTRE HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c DUKE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ACYLCARNITINE CARNITINE TRANSLOCASE; CARNITINE PALMITOYLTRANSFERASE; CARRIER PROTEIN; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONFERENCE PAPER; DIFFERENTIAL DIAGNOSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; HETEROZYGOTE; HUMAN; INFANT; MALE; TANDEM MASS SPECTROMETRY;

ACYLATION; CARNITINE; CARNITINE ACYLTRANSFERASES; CARNITINE O-PALMITOYLTRANSFERASE; FEMALE; FIBROBLASTS; HUMANS; INFANT; INTRACELLULAR MEMBRANES; LYMPHOCYTES; MALE; MITOCHONDRIA; RETROSPECTIVE STUDIES;

EID: 0029985828     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799424     Document Type: Conference Paper

References (7)

1. Corr PB, Creer MH, Yamada KA, et al (1989) Prophylaxis of early ventricular fibrillation by inhibition of aeylcarnitine accumulation. J Clin Invest 83: 927-936.
2. Demaugre F, Bonnefont JP, Colonna M, et al (1991) Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death: physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87: 859-864.
3. Elpeleg O, Adina J, Branski D, et al (1993) Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. J Pediatr 122: 917-919.
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5. Pande SV, Brivet M, Slama A, et al (1993) Carnitine aeylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block. Translocase assay in permeabilized fibroblasts. J Clin Invest 91: 1247-1252.
6. Pollitt RJ (1995) Disorders of mitochondrial long chain fatty acid oxidation. J Inher Metab Dis 18: 473-490.
7. Stanley CA, Hale DE, Berry GT, et al (1992) A deficiency of carnitine aeylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med 327: 19-23.