Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 415-419

  Olpin, S E ^a   Manning, N J ^a   Pollitt, R J ^a   Clarke, S ^a  

^a SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; LONG CHAIN FATTY ACID; MYRISTIC ACID; OLEIC ACID; PALMITIC ACID; TRITIUM;

CONFERENCE PAPER; ENZYME DEFICIENCY; FATTY ACID OXIDATION; HUMAN; INBORN ERROR OF METABOLISM;

CELL LINE; FATTY ACIDS; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; OLEIC ACIDS; OXIDATION-REDUCTION; SKIN; TRITIUM;

EID: 0030808290     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005358802096     Document Type: Conference Paper

References (6)

1. Brivet M, Slama A, Saudubray J-M, 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.
2. Ijlst L, Wanders RJA (1993) A simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblasts. Ann Clin Biochem 30: 293-297.
3. 3H]myristic acids for the detection of fatty acid oxidation defects in intact cultured fibroblasts. J Inher Metab Dis 13: 58-68.
4. 3H]palmitic acids by intact cultured fibroblasts. J Inher Metab Dis 15: 883-890.
5. Pande SV, Brivet M, Slama A, Demaugre F, Aufrant C, Saudubray J-M (1993) Carnitine-acylcarnitine translocase deficiency with severe hypoglycaemia and auriculo ventricular block. J Clin Invest 91: 1247-1252.
6. Wanders RJA, Ijlst L, van Gennip AH, et al (1990) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid β-oxidation. J Inher Metab Dis 13: 311-314.