A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype

Journal of Pediatrics

Volumn 132, Issue 3 I, 1998, Pages 514-516

  Morris, A A M ^a   Olpin, S E ^a   Brivet, M ^a   Turnbull, D M ^a   Jones, R A K ^a   Leonard, J V ^a  

^a ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ACYLCARNITINE CARNITINE TRANSLOCASE; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; CARRIER PROTEIN; CREATINE KINASE; MEDIUM CHAIN TRIACYLGLYCEROL; PALMITOYLCARNITINE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FIBROBLAST; HUMAN; HUMAN CELL; MALE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0031940967     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(98)70030-7     Document Type: Article

References (9)

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2. SV Pande M Brivet A Slama F Demaugre C Aufrant JM Saudubray Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block: translocase assay in permeabilized fibroblasts J Clin Invest 91 1993 1247 1252
3. H Ogier de Baulney A Slama G Touati D Turnbull M Pourfarzam M Brivet Neonatal hyperammonaemia caused by a defect of carnitine-acylcarnitine translocase J Pediatr 127 1995 723 728
4. KE Niezen-Koning FJ van Spronsen L Ijlst A patient with a lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency J Inherit Metab Dis 18 1995 230 232
5. M Brivet A Slama DS Millington 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 19 1996 181 184
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7. J Schaefer S Jackson F Taroni P Swift DM Turnbull Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy J Neurol Neurosurg Psychiatry 62 1997 169 176
8. WR Treem CA Stanley DN Finegold DE Hale PM Coates Primary carnitine deficiency due to failure of carnitine transport in kidney, muscle and fibroblasts N Engl J Med 319 1988 1331 1335
9. C Dionisi-Vici B Garavaglia A Bartuli Carnitine acylcarnitine translocase deficiency: benign course without cardiac involvement [abstract] Pediatr Res 37 1995 147A