References
- Chalmers RA, Lawson AM, Watts RWE, Tavill AS, Kamerling JP, Hey E, et al. D-2-hydroxyglutaric aciduria: Case report and biochemical studies. J Inherit Metab Dis 1980;3:11-5. https://doi.org/10.1007/BF02312516
- Brassier A, Ottolenghi C, Boddaert N, Sonigo P, Attie-Bitach T, Millischer-Bellaiche AE, et al. Prenatal symptoms and diagnosis of inherited metabolic diseases. Arch Pediatr 2012;19:959-69. https://doi.org/10.1016/j.arcped.2012.06.002
- Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK. L-2-Hydroxyglutaric aciduria: An inborn error of metabolism? J Inherit Metab Dis 1980;3:109-12. https://doi.org/10.1007/BF02312543
- Heil M, Podebrad F, Prado E, Beck T, Mosand A, Sewell AC, et al. Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. J Chromatogr B Biomed Sci Appl 739:313-24. https://doi.org/10.1016/S0378-4347(00)00022-0
- Inoue Y, Shinka T, Ohse M, Kuhara T. 2005 Differential chemical diagnosis of primary hyperoxaluria type II. Highly sensitive analysis of optical isomers of glyceric acid by GC/MS as diastereoisomeric derivatives. J Chromatogr B Analyt Technol Biomed Life Sci 2000;823:2-6.
- Fernandez-Lainez C, Aguilar-Lemus JJ, Vela-Amieva M, Ibarra-Gonzalez I. Tandem mass spectrometry newborn screening for inborn errors of intermediary metabolism: Abnormal profile interpretation. Curr Med Chem 2012;19:4511-22. https://doi.org/10.2174/092986712803251539
- Sewell AC, Heil M, Podebrad F, Mosandl A. Chiral compounds in metabolism: A look in the molecular mirror. Eur J Pediatr 1998;157:185-91. https://doi.org/10.1007/s004310050793
- Van Schaftingen E. D-glycerate kinase deficiency as a cause of D-glyceric aciduria. FEBS Lett 1989; 243:127-31. https://doi.org/10.1016/0014-5793(89)80113-9
- Watanabe H, Yamaguchi S, Saiki K, Shimizu N, Fukao T, Kondo N, et al. Identification of the Denantiomer of 2-hydroxyglutaric acid in glutaric aciduria type-II. Clin Chim Acta 1995;238:115- 24. https://doi.org/10.1016/0009-8981(95)06074-N
- Sewell, AC, Moritz A, Duran M. D-(+)-glyceric aciduria in an Afghan hound. J Inherit Metab Dis 1997;20:395-6. https://doi.org/10.1023/A:1005346532138
- Lee J, Yoon HR. Rapid diagnosis of metabolic disorders based on achiral separation by gas chromatography with a dual column. Anal Lett 2015;48: 231-40. https://doi.org/10.1080/00032719.2014.938348
- Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, et al. Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2. Mol Genet Metab 2008;94:61-7. https://doi.org/10.1016/j.ymgme.2008.01.002
- Kim KR, Lee J, Ha D, Jeon J, Park HG, Kim JH. Enantiomeric separation and discrimination of 2- hydroxy acids as O-trifluoroacetylated (S)-(+)-3- methyl-2-butyl esters by achiral dual-capillary column gas chromatography. J Chromatogr A 2000a; 874:91-100. https://doi.org/10.1016/S0021-9673(00)00072-8
- Kim KR, Lee J, Ha D, Kim JH. Configurational analysis of chiral acids as O-trifluoroacetylated (-) -menthyl esters by achiral dual-capillary column gas chromatography. J Chromatogr A 2000b;891: 257-66. https://doi.org/10.1016/S0021-9673(00)00690-7
- Sarafoglou, K, Matern D, Redlinger-Grosse K, Bentler K, Gaviglio A, Harding CO, et al. Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening. Pediatrics 2011;128:e246-e250. https://doi.org/10.1542/peds.2010-3918