In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: Limited diagnostic use of 1- 13C fatty acid breath test using bolus technique

European Journal of Pediatrics, Supplement

Volumn 156, Issue 1, 1997, Pages

  Jakobs, C ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

oxidation defects; Fatty acids; In vivo breath test; Multiple acyl CoA dehydrogenase; Stable isotopes

Indexed keywords

BUTYRIC ACID; CARBON 13; FATTY ACID; ISOTOPE; OCTANOIC ACID; PALMITIC ACID;

ADULT; AMINO ACID METABOLISM; ARTICLE; BREATH ANALYSIS; CARNITINE DEFICIENCY; CASE REPORT; CHILD; CONTROLLED STUDY; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; HUMAN; ISOTOPE LABELING; MALE; METABOLIC DISORDER; MITOCHONDRIAL RESPIRATION; ORAL DRUG ADMINISTRATION; PRIORITY JOURNAL;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; BREATH TESTS; CARBON ISOTOPES; CARNITINE; CARNITINE O-PALMITOYLTRANSFERASE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FATTY ACIDS; HUMANS; LIPID METABOLISM, INBORN ERRORS; MALE; OXIDATION-REDUCTION;

EID: 0030749154     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (2)

1. Bonnefont JP, Specola NB, Vassault A, Lombes A, Ogier H, De Klerk JBC, Munnich A, Coude M, Paturneau-Jouas M, Saudubray JM (1990) The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eur J Pediatr 150: 80-85
2. Brivet M, Slama A, Saudubray JM, 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