2017, Number 4
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salud publica mex 2017; 59 (4)
Metabolic screening and metabolomics analysis in the Intellectual Developmental Disorders Mexico Study
Ibarra-González I, Rodríguez-Valentín R, Lazcano-Ponce E, Vela-Amieva M
Language: English
References: 25
Page: 423-428
PDF size: 226.12 Kb.
ABSTRACT
Objective. Inborn errors of metabolism (IEM) are genetic
conditions that are sometimes associated with intellectual
developmental disorders (IDD). The aim of this study is
to contribute to the metabolic characterization of IDD of
unknown etiology in Mexico.
Materials and methods. Metabolic screening using tandem mass spectrometry and
fluorometry will be performed to rule out IEM. In addition,
target metabolomic analysis will be done to characterize the
metabolomic profile of patients with IDD.
Conclusion. Identification of new metabolomic profiles associated with
IDD of unknown etiology and comorbidities will contribute to the development of novel diagnostic and therapeutic schemes for the prevention and treatment of IDD in Mexico.
REFERENCES
Ghosh A, Schlecht H, Heptinstall LE, Bassett JK, Cartwright E, Bhaskar SS, et al. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. Arch Dis Child 2017. https://doi.org/10.1136/ archdischild-2017-312738
Alves V, Villaverde-Hueso A, Hens M, Morales-Piga A, Abaitua I, Posada de la Paz M. Public Health research on rare diseases. Georgian Med News 2011;(193):11-16.
Sayson B, Popurs MA, Lafek M, Berkow R, Stockler-Ipsiroglu S, van Karnebeek CD. Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities. Mol Genet Metab 2015;115(1):1-9. https://doi.org/10.1016/j.ymgme.2015.03.001
Therrell BL, Padilla CD, Loeber JG, Kneisser I, Saadallah A, Borrajo GJ, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol 2015;39(3):171-187. https://doi.org/10.1053/j.semperi.2015.03.002
Ibarra-González I, Fernández-Lainez C, Belmont-Martínez L, Guillén- López S, Monroy-Santoyo S, Vela-Amieva M. Characterization of inborn errors of intermediary metabolism in Mexican patients. An Pediatr (Barc) 2014;80(5):310-316. https://doi.org/10.1016/j.anpedi.2013.09.003
Lazcano-Ponce E, Katz G, Rodríguez-Valentín R, de Castro F, Allen-Leigh B, Márquez-Caraveo ME, et al. The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal. Salud Publica Mex 2016;58(6):694-707. https://doi.org/10.21149/ spm.v58i6.8267
van Karnebeek CD, Shevell M, Zschocke J, Moeschler JB, Stockler S. The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource. Mol Genet Metab 2014;111(4):428-438. https://doi. org/10.1016/j.ymgme.2014.01.011
García-Cazorla A, Wolf NI, Serrano M, Moog U, Pérez-Dueñas B, Póo P, et al. Mental retardation and inborn errors of metabolism. J Inherit Metab Dis 2009; 32(5):597-608. https://doi.org/10.1007/s10545-009-0922-5
Saudubray JM. Neurometabolic disorders. J Inherit Metab Dis 2009;32(5):595-596. https://doi.org/10.1007/s10545-009-9958-9
Wang H, Wang X, Li Y, Dai W, Jiang D, Zhang X, et al. Screening for inherited metabolic diseases using gas chromatography-tandem mass spectrometry (GC-MS/MS) in Sichuan, China. Biomed Chromatogr 2017;31(4):e3847. https://doi.org/10.1002/bmc.3847
Hope S, Johannessen CH, Aanonsen NO, Strømme P. The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway. Eur J Neurol 2016;23(suppl 1):36-44. https://doi.org/10.1111/ene.12884
Wilcken B, Wiley V. Fifty years of newborn screening. J Paediatr Child Health 2015;51(1):103-107. https://doi.org/10.1111/jpc.12817
Chace DH, Hannon WH. Technological journey from colorimetric to tandem mass spectrometric measurements in the diagnostic investigation for phenylketonuria. JIEMS 2016;4:1-11. https://doi. org/10.1177/2326409816671733
Vela-Amieva M, Belmont Martínez L, Ibarra González I, Fernández Lainez C. Variabilidad interinstitucional del tamiz neonatal en México. Bol Med Hosp Infant Mex 2009;66:431-439.
Borelli V, Vanhooren V, Lonardi E, Reiding KR, Capri M, Libert E, et al. Plasma N-Glycome Signature of Down Syndrome. J Proteome Res 2015;14(10):4232-4245. https://doi.org/10.1021/acs.jproteome.5b00356
He Y, Yu Z, Giegling I, Xie L, Hartmann AM, Prehn C, et al. Schizophrenia shows a unique metabolomics signature in plasma. Transl Psychiatry 2012;2:e149. https://doi.org/10.1038/tp.2012.76
Wang H, Liang S, Wang M, Gao J, Sun C, Wang J, et al. Potential serum biomarkers from a metabolomics study of autism. J Psychiatry Neurosci 2016;41(1):27-37. https://doi.org/10.1503/jpn.140009
Bernini P, Bertini I, Luchinat C, Nincheri P, Staderini S, Turano P. Standard operating procedures for pre-analytical handling of blood and urine for metabolomic studies and biobanks. J Biomol NMR 2011;49(3-4):231- 243. https://doi.org/10.1007/s10858-011-9489-1
Zhao YY. Metabolomics in chronic kidney disease. Clin Chim Acta 2013;25:59-69. https://doi.org/10.1016/j.cca.2013.03.033
Vidal M, Cusick ME, Barabási AL. Interactome networks and human disease. Cell 2011;144(6):986-998. https://doi.org/10.1016/j.cell.2011.02.016.
Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem 2001;47(7):1166-1182.
Xia J, Wishart DS. Using MetaboAnalyst 3.0 for Comprehensive Metabolomics Data Analysis. Curr Protoc Bioinformatics 2016;55:14.10.1- 14.10.91. https://doi.org/10.1002/cpbi.11
Castro F, Rojas R, Villalobos A, Allen B, Hubert C, Romero M, et al. Methodological bases and implementation results of Mexico’s National Survey of Children and Women 2015. Salud Publica Mex 2016;58(6):676- 684. https://doi.org/10.21149/spm.v58i6.8192
Tebani A, Abily-Donval L, Afonso C, Marret S, Bekri S. Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic Era. Int J Mol Sci 2016; 17(7):1167. https://doi.org/10.3390/ijms17071167
Roberts LD, Souza AL, Gerszten RE, Clish CB. Targeted metabolomics. Curr Protoc Mol Biol 2012; 98:30.2:30.2.1–30.2.24. https://doi. org/10.1002/0471142727.mb3002s98