Simplified screening for organic acidemia using GC/MS and dried urine filter paper: A study on neonatal mass screening

Early Human Development

Volumn 58, Issue 1, 2000, Pages 41-55

  Fu, Xiao Wei ^a   Iga, Misako ^a   Kimura, Masahiko ^a   Yamaguchi, Seiji ^a  

^a SHIMANE UNIVERSITY   (Japan)

Author keywords

Filter paper urine; GC MS; Metabolic screening; Neonatal mass screening; Organic acidemia

Indexed keywords

ACIDEMIA; ANALYTIC METHOD; ARTICLE; DATA ANALYSIS; GAS CHROMATOGRAPHY; HUMAN; HUMAN CELL; MASS SCREENING; MASS SPECTROMETRY; METABOLIC DISORDER; METABOLIC REGULATION; SAMPLING;

ACIDOSIS; ADOLESCENT; AUTOANALYSIS; CHILD; CHILD, PRESCHOOL; EVALUATION STUDIES; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; RADIOISOTOPE DILUTION TECHNIQUE; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 0034005028     PISSN: 03783782     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-3782(00)00053-0     Document Type: Article

References (19)

1. Guthrie R. Screening for inborn errors of metabolism in the newborn infant - a multiple test program. Birth Defects. 4:1968;92-98.
2. Levy H.L. Newborn screening by tandem mass spectrometry: a new era. Clin Chem. 44:1998;2401-2402.
3. Sweetman L. Newborn screening by tandem mass spectrometry (MS-MS). Clin Chem. 42:1996;345-346.
4. Brown E.I. Metabolic screening. Clin Perinatol. 25:1998;371-388.
5. Sweetman L. Organic acid analysis. Techniques in diagnostic human biochemical genetics: a laboratory manual. 1991;143-176 Wiley-Liss, New York.
6. Goodman S.I., Markey S.P. Diagnosis of organic acidemias by gas chromatography-mass spectrometry. 1981;Alan Liss, New York.
7. Tanaka K., Hine D.G., West-Dull A., Lynn T.B. Gas-chromatographic method of analysis for urinary organic acids I: retention indices of 155 metabolically important compounds. Clin Chem. 26:1980;1839-1846.
8. Rashed M.S., Bucknall M.P., Little D., Awad A., Jacob M., Alamoudi M., Alwattar M., Ozand P.T. Screening blood spots for inborn errors of metabolism by electrosprsay tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem. 43:1997;1129-1141.
9. Tuchman M., McCann M.T., Johnson P.E., Lemieux B. Screening newborns for multiple organic aciduria in dried filter paper urine samples: method development. Pediatr Res. 30:1991;315-321.
10. Chamberlin B.A., Sweeley C.C. Metabolic profiles of urinary organic acids recovered from absorbed filter paper. Clin Chem. 33:1987;572-576.
11. Matsumoto I., Kuhara T. A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis. Mass Spectrom Rev. 15:1996;43-57.
12. Shoemarker J.D., Elliott W.H. Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease. J Chromatog. 562:1991;125-138.
13. Kimura M., Yamamoto T., Yamaguchi S. A personal computer based system for the interpretation of gas chromatography mass spectrometry data in the diagnosis of organic acidemias. Ann Clin Biochem. 36:1999;144.
14. Kimura M., Yamamoto T., Yamaguchi S. Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system. Tohoku J Exp Med. 188:1999;317-334.
15. Hawk P.B., Oser B.L., Summerson W.H. Practical Physiology Chemistry. 1947;839-842 Blakiston, Philadelphia, PA.
16. Rashed M.S., Ozade P.T., Bucknall M.P., Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Clin Chem. 38:1995;324-331.
17. Greter J., Jacobson C.E. Urinary organic acids: isolation and quantification for routine metabolic screening. Clin Chem. 33:1987;473-480.
18. Matsumoto I., Kuhara T. Inborn errors of amino acid and organic acid metabolism. Mass Spectrometry: Clinical and Biomedical Applications. 1992;259-298 Plenum, New York.
19. Tanaka K., West-Dull A., Hine D.G., Lynn T.B., Lowe T. Gas chromatographic method of analysis for urinary organic acids II: description of the procedure, and its application to diagnosis of patients with organic aciduria. Clin Chem. 26:1980;1847-1853.