Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme

Journal of Inherited Metabolic Disease

Volumn 21, Issue 6, 1998, Pages 624-630

  Abdenur, J E ^a   Chamoles, N A ^a   Guinle, A E ^a   Schenone, A B ^a   Fuertes, A N J ^a  

^a Fund Estud Enferm N   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; AMINO ACID; ANTIBIOTIC AGENT; CARBOXYLIC ACID; CARNITINE DERIVATIVE; ISOVALERIC ACID; PIVALIC ACID; PIVALOYLCARNITINE; UNCLASSIFIED DRUG;

ACIDEMIA; ARTICLE; BLOOD ANALYSIS; BREAST MILK; CASE REPORT; CONTROLLED STUDY; DIAGNOSTIC ERROR; FEMALE; GAS CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; MASS SPECTROMETRY; MATERNAL BLOOD; NEWBORN; NEWBORN SCREENING; TANDEM MASS SPECTROMETRY; URINALYSIS; URINARY TRACT INFECTION;

CARNITINE; FALSE POSITIVE REACTIONS; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT, NEWBORN; MASS SPECTROMETRY; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PENTANOIC ACIDS; SULBACTAM; URINARY TRACT INFECTIONS;

EID: 0031752221     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005424331822     Document Type: Article

References (11)

1. Abrahamsson K, Mellander M, Eriksson BO, et al (1995) Transient reduction of human left ventricular mass in carnitine depletion induced by antibiotics containing pivalic acid. Br Heart J 74: 656-659.
2. Bartlett K, Eaton SJ, Pourfarzam M (1997) New developments in neonatal screening. Arch Dis Child 77: F151-154.
3. Broderick TL, Christos SC, Wolf BA, Didomenico D, Shug AL, Paulson DJ (1995) Fatty acid oxidation and cardiac function in the sodium pivalate model of secondary carnitine deficiency. Metabolism 44: 499-505.
4. Kamerling JP, Duran M, Bruinvis L, et al (1977) (2-Ethoxyethoxy)acetic acid: an unusual compound found in the gas Chromatographic analysis of urinary organic acids. Clin Chim Act a 77: 397-405.
5. Melegh B, Kerner J, Jaszai V, Bieber LL (1990) Differential excretion of xenobiotic acyl-esters of carnitine due to administration of pivampicillin and valproate. Biochem Med Metab Biol 43: 30-38.
6. Millington DS, Terada N, Chace DH, et al (1992) The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. In Coates P, Tanaka K, eds. New Developments in Fatty Acid Oxidation. New York: Wiley-Liss, 339-354.
7. Millington DS, Chace DH, Hillman SL, Kodo N, Terada N (1994) Diagnosis of metabolic disease. In Matsuo T, Caprioli RM, Gross ML, Sevama Y, eds. Biological Mass Spectrometry: Present and Future: New York: Wiley, 559-579.
8. Rashed M, Ozand PT, Bucknall MP, Little D (1995a) Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and aminoacids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 38: 324-331.
9. Rashed MS, Ozand PT, Bennett MJ, Barnard JJ, Govindaraju DR, Rinaldo P (1995b) Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 41: 1109-1114.
10. Sweetman L (1996) Newborn screening by tandem mass spectrometry (MS-MS). Clin Chem 42: 345.
11. Ziadeh R, Hoffman EP, Finegold DN, et al (1995) Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res 37: 675-678.