Abstract
Organic acids are low molecular weight (mass <300) organic substances. They have one or more carboxylic acid groups and may have keto or hydroxy groups which make them polar. They do not have an amino group that distinguishes them from amino acids.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Al-Dirbashi OY, Santa T, Al-Quahtani K, Al-Amoudi M, Rashed MS (2007) Analysis of organic acid markers relevant to inherited metabolic diseases by ultra-performance liquid chromatography/tandem mass spectrometry as benzofuran derivatives. Rapid Commun Mass Spectrom 21:1984–1990
Bikker H, Bakker HD, Abeling NGGM et al (2006) A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat 27:640–643
Blom HJ, van Rooij A, Hogeveen M (2007) A simple high-throughput method for the determination of plasma methylmalonic acid by liquid chromatography-tandem mass spectrometry. Clin Chem Lab Med 45:645–650
Costa CG, Verhoeven NM, Kneepkens CM et al (1996) Organic acid profiles resembling a ß- oxidation defect in two patients with coeliac disease. J Inherit Metab Dis 19:177–180
Duran M, Ketting D, Wadman SK, Trijbels JM, Bakkeren JA, Waelkens JJ (1973) Propionic acid, an artefact which can leave methylmalonic acidemia undiscovered. Clin Chim Acta 49:177–179
Duran M, Walther FJ, Bruinvis L, Wadman SK (1983) The urinary excretion of ethylmalonic acid: what level requires further attention? Biochem Med 29:171–175
Greter J, Hagberg B, Steen G, Soederhjelm U (1978) 3-Methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy. Eur J Pediatr 129:231–238
Haagen AAM, Duran M (1987) Absence of increased succinylacetone in the urine of a child with hereditary tyrosinemia type I. J Inherit Metab Dis 10:323–325
Halket JM, Przyborowska A, Stein SE, Mallard WG, Down S, Chalmers RA (1999) Deconvolution gas chromatography/mass spectrometry of urinary organic acids – potential for pattern recognition and automated identification of metabolic disorders. Rapid Commun Mass Spectrom 13:279–284
Hammond J, Wilcken B (1984) 3-Hydroxy-3-methylglutaric, 3-methylglutaconic, and 3-methylglutaric acids can be non-specific indicators of metabolic disease. J Inherit Metab Dis 7(Suppl 2):117–118
Houten SM, Kuis W, Duran M et al (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 22:175–177
Ko FJ, Wolff J, Nyhan WL, Barshop B, Sweetman L (1991) 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism. Pediatr Res 30:322–326
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
Larsson A, Mattsson B, Wauters EAK, van Gool JD, Duran M, Wadman SK (1981) 5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers- a new inborn error of the gamma-glutamyl cycle. Acta Paediatr Scand 70:301–308
Loots DT (2009) Abnormal tricarboxylic acid cycle metabolites in isovaleric acidemia. J Inherit Metab Dis 32:403–411
Loupatty FJ, van der Steen A, Ijlst L et al (2006) Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. Mol Genet Metab 87:243–248
Morava E, Steuerwald U, Carrozzo R et al (2009) Dystonia and deafness due to SUCLA2 defect: clinical course and biochemical markers in 16 patients. Mitochondrion 9:438–442
Ofman R, Ruiter JPN, Feenstra M et al (2003) 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet 72:1300–1307
Przyrembel H, Bremer HJ, Duran M et al (1979) Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels. Eur J Pediatr 130:1–14
Reinecke CJ, Koekemoer G, van der Westhuizen FH (2012) Metabolomics of urinary organic acids in respiratory chain deficiencies in children. Metabolomics 8:264–283
Sander J, Janzen N, Peter M et al (2006) Newborn screening for hepatorenal tyrosinemia: tandem mass spectrometric quantification of succinylacetone. Clin Chem 52:482–487
Tavares de Almeida I, Duran M et al (1991) Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis. J Inherit Metab Dis 14:259–262
van Maldegem BT, Duran M, Wanders RJA et al (2006) Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA 23:943–952
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2014 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
de Almeida, I.T., Duran, M. (2014). Organic Acids. In: Blau, N., Duran, M., Gibson, K., Dionisi Vici, C. (eds) Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-40337-8_50
Download citation
DOI: https://doi.org/10.1007/978-3-642-40337-8_50
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-40336-1
Online ISBN: 978-3-642-40337-8
eBook Packages: MedicineMedicine (R0)