Organic acids

Laboratory Guide to the Methods in Biochemical Genetics

Volumn , Issue , 2008, Pages 137-169

  Rinaldo, Piero ^a  

^a Mayo Clinic   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 67449133285     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-76698-8_9     Document Type: Chapter

References (39)

1. Al-Dirbashi OY, Rashed MS, Brink HJ, Jakobs C, Filimban N, Al-Ahaidib LY, Jacob M, Al-Sayed MM, Al-Hassnan Z, Faqeih E (2006) Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry. J Chromatogr B 831:274-280
2. American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories: http://www.acmg.net
3. Auray-Blais C, Giguere R, Lemieux B (2003) Newborn urine screening programme in the province of Quebec: an update of 30 years' experience. J Inherit Metab Dis 26:393-402
4. Baena B, Cifuentes A, Barbas C (2005) Analysis of carboxylic acids in biological fluids by capillary electrophoresis. Electrophoresis 26:2622-2636
5. Bartlett K, Gompertz D (1974) The specificity of glycine-N-acylase and acylglycine excretion in the organic acidaemias. Biochem Med 10:15-23
6. Bonafe L, Troxler H, Kuster T, Heizmann CW, Chamoles NA, Burlina AB, Blau N (2000) Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. Mol Genet Metab 69:302-311
7. Boulat O, Gradwohl M, Matos V, Guignard JP, Bachmann C (2002) Organic acids in the second morning urine in a healthy Swiss paediatric population. Clin Chem Lab Med 41:1642-1658
8. CAP survey catalog web site: http://www.cap.org/apps/docs/proficiency- testing
9. Chalmers RA, Lawson AM (1982) Organic Acids in Man: Analytical Chemistry, Biochemistry and Diagnosis of the Organic Acidurias. Chapman and Hall, London
10. Garcia A, Barbas C (2003) Capillary electrophoresis for the determination of organic acidurias in body fluids: a review. Clin Chem Lab Med 41:755-761
11. Giordano G, McMurray WJ, Previs SF, Welch RD, Rinaldo P (1990) Identification of 2-(2'-octenyl) succinic acid in urine. Rapid Commun Mass Spectrom 4:170-172
12. Goodman SI, Markey SP (1981) Diagnosis of Organic Acidemias by Gas Chromatography-Mass Spectrometry. Alan R. Liss, New York
13. Guneral F, Bachmann C (1994) Age-related reference values for urinary organic acids in a healthy Turkish pediatric population. Clin Chem 1994 40:862-866
14. Guth HJ, Zschiesche M, Panzig E, Rudolph PE, Jager B, Kraatz G (1999) Which organic acids does hemofiltrate contain in the presence of acute renal failure? Int J Artif Organs 22:805-810
15. Hoffman GF. Organic acid analysis. In: Blau N, Duran M, Blaskovics ME (eds) Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. Chapman Hall, London, pp 31-49
16. Hoffmann GF, von Kries R, Klose D, Lindner M, Schulze A, Muntau AC, Roschinger W, Liebl B, Mayatepek E, Roscher AA (2004) Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany. Eur J Pediatr 163:76-80
17. Hori D, Hasegawa Y, Kimura M, Yang Y, Verma IC, Yamaguchi S (2005) Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. Brain Dev 27:39-45
18. Kelley RI (1991) Octenylsuccinic aciduria in children fed protein-hydrolysate formulas containing modified cornstarch. Pediatr Res 30:564-569
19. Kroll CA, Magera MJ, Helgeson JK, Matern D, Rinaldo P (2002) A liquid chromatographytandem mass spectrometry method for the determination of 5-hydroxyindole-3-acetic acid in urine. Clin Chem 48:2049-2051
20. Kuhara T (2002) Diagnosis and monitoring of inborn errors of metabolism using ureasepretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry. J Chromatogr B 781:497-517
21. Kumps A, Duez P, Mardens Y (2002) Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table. Clin Chem 48:708-717
22. Kumps A, Vamos E, Mardens Y, Abramowicz M, Genin J, Duez P (2004) Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid. J Inherit Metab Dis 27:567-579
23. Lehotay DC, Clarke JTR (1995) Organic acidurias and related abnormalities. Crit Rev Clin Lab Sci 32:377-429
24. Magera MJ, Helgeson JK, Matern D, Rinaldo P (2000) Methylmalonic acid measured in plasma and urine by stable-isotope dilution and electrospray tandem mass spectrometry. Clin Chem 46:1804-1810
25. Magera MJ, Thompson AL, Stoor AL, Helgeson JK, Matern D, Rinaldo P (2003) Determination of vanillylmandelic acid in urine by stable isotope dilution and electrospray tandem mass spectrometry. Clin Chem 49:825-826
26. Ohie T, Fu X, Iga M, Kimura M, Yamaguchi S (2000) Gas chromatography-mass spectrometry with tert.-butyldimethylsilyl derivation: use of the simplified sample preparations and the automated data system to screen for organic acidemias. J Chromatogr B Biomed Sci Appl 746:63-73
27. Pitt JJ, Eggington M, Kahler SG (2002) Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry. Clin Chem 48:1970-1980
28. Rashed MS, Aboul-Enein HY, Al-Amoudi M, Jakob M, Al-Ahaideb LY, Abbad A, Shabib S, Al-Jishi E (2002) Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of glyceric acid in urine of patients with d-glyceric and l-glyceric acidurias. Biomed Chromatogr 16:191-198
29. Rinaldo P, O'Shea JJ, Coates PM, Hale DE, Stanley CA, Tanaka K (1988) Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by Stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. N Engl J Med 319:1308-1313
30. Rinaldo P, Yoon HR, Yu C, Raymond K, Tiozzo C, Giordano G (1999) Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders. Semin Perinatol 23:204-210
31. Rinaldo P, Coates PM, Vockley J (2005) In memoriam. Mol Genet Metab 86:335-336
32. Rinaldo P, Hahn SH, Matern D (2005) Inborn errors of amino acid, organic acid, and fatty acid metabolism. In: Burtis CA, Ashwood ER, Bruns DE (eds) Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 4th edn. Saunders, St. Louis, Missouri, pp 2207-2247
33. Sewell AC, Bohles HJ (1991) 4-Hydroxycyclohexanecarboxylic acid: a rare compound in urinary organic acid analysis. Clin Chem 37:1301-1302
34. Sims CJ, Fujito DT, Burholt DR, Dadok J, Giles HR, Wilkinson DA (1993) Quantification of human amniotic fluid constituents by high resolution proton nuclear magnetic resonance (NMR) spectroscopy. Prenat Diagn 13:473-480
35. Sweetman L (1991) Organic acid analysis. In: Hommes FA (ed) Techniques in Diagnostic Human Biochemical Genetics. Wiley-Liss, New York, pp 143-176
36. Tanaka K (1990) Isovaleric acidemia: personal history, clinical survey, and study of the molecular basis. Progr Clin Biol Res 321:273-290
37. Wajner M, Raymond K, Barschak A, Luft AP, Ferreira G, Domingues G, Chiochetta M, Sirtori L, Goulart L, Pulrolnik V, Pires R, Grillo E, Lohr A, Funayama C, Sanseverino MT, Longuercio-Leite JC, Coelho JC, Giugliani R, Regla-Vargas C (2002) Detection of organic acidemias in Brazil. Arch Med Res 33:581-585
38. Wilcken B, Hammond JW, Howard N, Bohane T, Hocart C, Halpern B (1981) Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy. N Engl J Med 305:865-868
39. Yamaguchi S, Kimura M, Iga M, Fu XW, Ohie T, Yamamoto T (1999) Automated, simplified GC/MS data processing system for organic acidemia screening and its application. Southeast Asian J Trop Med Publ Health 30:174-180