Skip to main content Accessibility help
×
Home
  • Print publication year: 2014
  • Online publication date: March 2014

Chapter 24 - Laboratory diagnosis of inborn errors of metabolism

from Section IV - Metabolic liver disease

Related content

Powered by UNSILO
References
Eminoglu, TF, Tumer, L, Okur, I, et al. Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide. Forensic Sci Int 2011;210:e1–3.
Blau, N, Duran, M, Gibson, KM (eds.). Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer-Verlag, 2008.
Saudubray, JM, van der Berghe, G, Walter, JH (eds.) Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin: Springer-Verlag, 2012.
Saudubray, JM. Clinical approach to inborn errors of metabolism in pediatrics. In Saudubray, JM, van der Berghe, G, Walter, JH (eds.) Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin: Springer-Verlag, 2012, pp. 4–54.
Crushell, E, Chukwu, J, Mayne, P, Blatny, J, Treacy, EP. Negative screening tests in classical galactosaemia caused by S135L homozygosity. J Inherit Metab Dis 2009;32:412–415.
Johnson, JL, Duran, M. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In Valle D, Beaudet AL, Vogelstein B, et al. (eds.) The Online Metabolic & Molecular Bases of Inherited Disease. (, accessed 22 July 2013).
Rinaldo, P. Postmortem investigations. In Hoffman, GF, Zschocke, J, Nyhan, WL (eds.) Inherited Metabolic Diseases. Berlin: Springer-Verlag, 2010, pp. 335–338.
Rinaldo, P, Cowan, TM, Matern, D. Acylcarnitine profile analysis. Genet Med 2008;10:151–156.
Rinaldo, P. Organic acids. In Blau, N, Duran, N, Gibson, KM (eds.) Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer-Verlag, 2008, pp. 137–170.
Pitt, JJ, Hauser, S. Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjects. Clin Chem 1998;44:1497–1503.
Matern, D. Acylcarnitines, including in vitro loading tests. In Blau, N, Duran, N, Gibson, KM (eds.) Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer-Verlag, 2008, pp. 171–206.
Vassault, A. Lactate, pyruvate, acetoacetate and 3-hydroxybutyrate. In Blau, N, Duran, N, Gibson, KM (eds.) Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer-Verlag, 2008, pp. 35–51.
Wang, D, De Vivo, D. Pyruvate carboxylase deficiency. In Pagon, RA, Bird, TD, Dolan, CR, Stephens, K (eds.) GeneReviews. Seattle, WA: University of Washington, Seattle, 1993– (website, updated July 2011; accessed March 13, 2012).
Coude, FX, Ogier, H, Marsac, C, et al. Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency. Pediatrics 1981;68:914.
Munnich, A, Saudubray, J-M, Taylor, J, et al. Congenital lactic acidosis, α-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyldehydrogenase deficiency. Acta Paediatr Scand 1982;71:167–171.
Bonnefont, JP, Chretien, D, Rustin, P, et al. Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J Pediatr 1992;121:255–258.
Shih, VE. Amino acid analysis. In Blau, N, Duran, M, Blaskovics, ME, et al. (eds.) Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. 2nd edn. Berlin: Springer-Verlag, 2003, pp. 11–26.
Tein, I. Neonatal metabolic myopathies. Semin Perinatol 1999;23:125–151.
Chalmers, RA. Organic acids in urine of patients with congenital lactic acidosis: an aid to differential diagnosis. J Inherit Metab Dis 1984;7(suppl 1):79–89.
Cowan, TM, Blitzer, MG, Wolf, B. Technical standards and guidelines for the diagnosis of biotinidase deficiency. Genet Med 2010;12:464–470.
Bourgeron, T, Rustin, P, Chretien, D, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995;11:144–149.
Bennett, MJ, Sherwood, WG, Gibson, KM, et al. Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect. J Inherit Metab Dis 1993;16:560–562.
Strauss, AW, Andresen, BS, Bennett, MJ. Mitochondrial fatty acid oxidation defects. In Sarafoglu, K, Hoffman, GF, Roth, KS (eds.) Pediatric Endocrinology and Inborn Errors of Metabolism. New York: McGraw Hill Medical, 2009, pp. 51–70.
Rinaldo, P, Matern, D. Disorders of fatty acid transport and mitochondrial oxidations. In Rimoin, DL, Connor, MJ, Pyeritz, RE, Korf, BR (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics, 5th edn, vol 3. Philadelphia, PA: Churchill Livingstone-Elsevier, 2007, pp. 2285–2295.
Rinaldo, P, Stanley, CA, Sanchez, LA, et al. Sudden neonatal death in carnitine transporter deficiency. J Pediatr 1997;131:304–305.
Raymond, K, Bale, AE, Barnes, CA, et al. Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman. Genet Med 1999;1:293–294.
Patel, JS, Leonard, JV. Ketonuria and medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1995;18:98–99.
Rinaldo, P, Raymond, K, al-Odaib, A, Bennett, MJ. Fatty acid oxidation disorders: clinical and biochemical features. Curr Opin Pediatr 1998;10:615–621.
Drousiotou, A, DiMeo, I, Mineri, R, et al. Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches. Clin Genet 2011;79:385–390.
Stanley, CA, DeLeeuw, S, Coates, PM, et al. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 1991;30:709–716.
Vogeser, M, Seger, C. A decade of HPLC-MS/MS in the routine clinical laboratory: goals for further developments. Clin Biochem 2008;41:649–662.
Rinaldo, P, Yoon, HR, Yu, C, et al. Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders. Semin Perinatol 1999;23:204–210.
Summar, ML. Urea cycle disorders. In Sarafoglu, K, Hoffman, GF, Roth, KS (eds.) Pediatric Endocrinology and Inborn Errors of Metabolism. New York, McGraw Hill Medical, 2009, pp. 141–152.
Bachmann, C, Colombo, JP. Acid-base status and plasma glutamine in patients with hereditary urea cycle disorders. In Soeters, PB, Wilson, JHP, Meijer, AJ, et al. (eds.) Advances in Ammonia Metabolism and Hepatic Encephalopathy. Amsterdam: Elsevier, 1988, pp. 72–78.
Dietzen, DJ, Rinaldo, P, Whitley, RJ, et al. National Academy of Clinical Biochemistry laboratory medicine practice guidelines – Follow up testing for metabolic diseases identified by expanded newborn screening using tandem mass spectrometry. Clin Chem 2009;55:1615–1626.
Chuang, DT, Wynn, RM, Shih, VE. Maple syrup urine disease (branched-chain ketoaciduria). In Valle D, Beaudet AL, Vogelstein B, et al. (eds.) The Online Metabolic & Molecular Bases of Inherited Disease (, accessed 22 July 2013).
Matthews, DE, Ben-Galim, E, Haymond, MW, et al. Alloisoleucine formation in maple syrup urine disease: isotopic evidence for the mechanism. Pediatr Res 1980;14:854–857.
Oglesbee, D, Sanders, KA, Lacey, JM, et al. 2nd-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). Clin Chem 2008;54:542–549.
Dulac, O, Rolland, MO. Nonketotic hyperglycinaemia (glycine encephalopathy). In Saudubray, JM, van den Berghe, G, Walter, JH (eds.) Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin: Springer-Verlag, 2012, pp. 349–356.
Hamosh, A, Johnston, MV. Nonketotic hyperglycinemia. In Valle D, Beaudet AL, Vogelstein B, et al. (eds.) The Online Metabolic & Molecular Bases of Inherited Disease (, accessed 22 July 2013).
Watson, MS, Mann, MY, Lloyd-Puryear, MA, Rinaldo, P, Howell, RR. Newborn screening: toward a uniform screening panel and system. Genet Med 2006;8(Suppl):1S–11S.
Rinaldo, P, Matern, D. Newborn screening for inherited metabolic diseases. In Hoffman, GF, Zschocke, J, Nyhan, WL (eds.) Inherited Metabolic Diseases. Berlin: Springer-Verlag, 2010, pp. 251–262.
Turgeon, C, Magera, MJ, Allard, P, et al. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem 2008;54:657–664.
Tortorelli, S, Turgeon, CT, McHugh, DMS, et al. Two-tier approach to the newborn screening of methylene tetrahydrofolate reductase deficiency and other re-methylation disorders by tandem mass spectrometry. J Pediatr 2010;157:271–275.
Turgeon, CT, Magera, MJ, Cuthbert, CD, et al. Simultaneous determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem 2010;56:1686–1695.
McHugh, DMS, Cameron, CA, Abdenur, JE, et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project. Genet Med 2011;13:230–254.
Marquardt, G, Currier, R, McHugh, DMS, et al. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med 2012; 14:648–655.
Green, NS, Rinaldo, P, Brower, A, et al. Committee report: advancing the current recommended panel of conditions for newborn screening. Genet Med 2007;9:792–796.
Calonge, N, Green, NS, Rinaldo, P, et al. Committee report: method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med 2010;12:153–159.