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Article

High levels of blood glutamic acid and ornithine in children with intellectual disability

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Pages 609-614 | Received 13 Jul 2020, Accepted 28 Nov 2020, Published online: 21 Dec 2020

References

  • Ahmed, S., Majid, H., Jafri, L., Khan, A. H., Ali, Z. Z. and Afroze, B. 2019. Retrospective study of patients with hyperphenylalaninemia- experience from a tertiary care center in Pakistan. JPMA. The Journal of the Pakistan Medical Association, 69, 509–513.
  • Baric, I., Cuk, M., Fumic, K., Vugrek, O., Allen, R. H., Glenn, B., Maradin, M., Pazanin, L., Pogribny, I., Rados, M., Sarnavka, V., Schulze, A., Stabler, S., Wagner, C., Zeisel, S. H. and Mudd, S. H. 2005. S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy. Journal of Inherited Metabolic Disease, 28, 885–902.
  • Baric, I., Erdol, S., Saglam, H., Lovric, M., Beluzic, R., Vugrek, O., Blom, H. J. and Fumic, K. 2017. Glycine N-methyltransferase deficiency: A member of dysmethylating liver disorders? JIMD Reports, 31, 101–106.
  • Bijarnia-Mahay, S., Haberle, J., Jalan, A. B., Puri, R. D., Kohli, S., Kudalkar, K., Rufenacht, V., Gupta, D., Maurya, D., Verma, J., Shigematsu, Y., Yamaguchi, S., Saxena, R. and Verma, I. C. 2018. Urea cycle disorders in India: Clinical course, biochemical and genetic investigations, and prenatal testing. Orphanet Journal of Rare Diseases, 13, 174.
  • Brassier, A., Gobin, S., Arnoux, J. B., Valayannopoulos, V., Habarou, F., Kossorotoff, M., Servais, A., Barbier, V., Dubois, S., Touati, G., Barouki, R., Lesage, F., Dupic, L., Bonnefont, J. P., Ottolenghi, C. and DE Lonlay, P. 2015. Long-term outcomes in Ornithine Transcarbamylase deficiency: A series of 90 patients. Orphanet Journal of Rare Diseases, 10, 58.
  • Brown, C. S. and Lichter-Konecki, U. 2016. Phenylketonuria (PKU): A problem solved? Mol Genet Metab Rep, 6, 8–12.
  • Colonetti, K., Roesch, L. F. and Schwartz, I. V. D. 2018. The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay? Genetics and Molecular Biology, 41, 515–532.
  • Costanzo, M., Zacchia, M., Bruno, G., Crisci, D., Caterino, M. and Ruoppolo, M. 2017. Integration of proteomics and metabolomics in exploring genetic and rare metabolic diseases. Kidney Diseases (Basel, Switzerland)), 3, 66–77.
  • Dogu, B., Yilmaz, N., Ozcekic, S. and Oksuz, H. 2015. Late onset ornithine transcarbamylase deficiency accompanying severe hyperammonemia after cesarean section: Case report. American Journal of Medical Case Reports, 3, 133–136.
  • Ferreira, C. R., Van Karnebeek, C. D. M., Vockley, J. and Blau, N. 2019. A proposed nosology of inborn errors of metabolism. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 21, 102–106.
  • Giordano, G., DI Gangi, I. M., Gucciardi, A. and Naturale, M. 2012. Quantification of underivatised amino acids on dry blood spot, plasma, and urine by HPLC-ESI-MS/MS. Methods in Molecular Biology (Clifton, N.J.).), 828, 219–242.
  • Graham, E., Lee, J., Price, M., Tarailo-Graovac, M., Matthews, A., Engelke, U., Tang, J., Kluijtmans, L. A. J., Wevers, R. A., Wasserman, W. W., Van Karnebeek, C. D. M. and Mostafavi, S. 2018. Integration of genomics and metabolomics for prioritization of rare disease variants: A 2018 literature review. Journal of Inherited Metabolic Disease, 41, 435–445.
  • Haberle, J., Boddaert, N., Burlina, A., Chakrapani, A., Dixon, M., Huemer, M., Karall, D., Martinelli, D., Crespo, P. S., Santer, R., Servais, A., Valayannopoulos, V., Lindner, M., Rubio, V. and Dionisi-Vici, C. 2012. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases, 7, 32.
  • Hartmann, S., Okun, J. G., Schmidt, C., Langhans, C. D., Garbade, S. F., Burgard, P., Haas, D., Sass, J. O., Nyhan, W. L. and Hoffmann, G. F. 2006. Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clinical Chemistry, 52, 1127–1137.
  • Hassan, F. A., EL-Mougy, F., Sharaf, S. A., Mandour, I., Morgan, M. F., Selim, L. A., Hassan, S. A., Salem, F., Oraby, A., Girgis, M. Y., Mahmoud, I. G., EL-Badawy, A., EL-Nekhely, I., Moharam, N., Mehaney, D. A. and Elmonem, M. A. 2016. Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study. Journal of Medical Screening, 23, 124–129.
  • Huemer, M., Kozich, V., Rinaldo, P., Baumgartner, M. R., Merinero, B., Pasquini, E., Ribes, A. and Blom, H. J. 2015. Newborn screening for homocystinurias and methylation disorders: Systematic review and proposed guidelines. Journal of Inherited Metabolic Disease, 38, 1007–1019.
  • Ibarra-Gonzalez, I., Rodriguez-Valentin, R., Lazcano-Ponce, E. and Vela-Amieva, M. 2017. Metabolic screening and metabolomics analysis in the Intellectual Developmental Disorders Mexico Study. Salud Publica Mex, 59, 423–428.
  • Li, D. X., Li, X. Y., Dong, H., Liu, Y. P., Ding, Y., Song, J. Q., Jin, Y., Zhang, Y., Wang, Q. and Yang, Y. L. 2018. Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria. World Journal of Pediatrics : WJP, 14, 197–203.
  • Martinelli, D., Diodato, D., Ponzi, E., Monne, M., Boenzi, S., Bertini, E., Fiermonte, G. and Dionisi-Vici, C. 2015. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Orphanet Journal of Rare Diseases, 10, 29.
  • Mazaheri, A., Mostofizadeh, N. and Hashemipour, M. 2017. Homocystinuria with stroke and positive familial history. Advanced Biomedical Research, 6, 132.
  • Nashabat, M., Al-Khenaizan, S. and Alfadhel, M. 2018. Methionine adenosyltransferase I/III deficiency: Beyond the central nervous system manifestations. Therapeutics and Clinical Risk Management, 14, 225–229.
  • Perez-Arellano, I., Carmona-Alvarez, F., Martinez, A. I., Rodriguez-Diaz, J. and Cervera, J. 2010. Pyrroline-5-carboxylate synthase and proline biosynthesis: From osmotolerance to rare metabolic disease. Protein Science: a Publication of the Protein Society, 19, 372–382.
  • Perucho, J., Gonzalo-Gobernado, R., Bazan, E., Casarejos, M. J., Jimenez-Escrig, A., Asensio, M. J. and Herranz, A. S. 2015. Optimal excitation and emission wavelengths to analyze amino acids and optimize neurotransmitters quantification using precolumn OPA-derivatization by HPLC. Amino Acids, 47, 963–973.
  • Poloni, S., Sperb-Ludwig, F., Borsatto, T., Weber Hoss, G., Doriqui, M. J. R., Embirucu, E. K., Boa-Sorte, N., Marques, C., Kim, C. A., Fischinger Moura DE Souza, C., Rocha, H., Ribeiro, M., Steiner, C. E., Moreno, C. A., Bernardi, P., Valadares, E., Artigalas, O., Carvalho, G., Wanderley, H. Y. C., Kugele, J., Walter, M., Gallego-Villar, L., Blom, H. J. and Schwartz, I. V. D. 2018. CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. Molecular Genetics & Genomic Medicine, 6, 160–170.
  • Silfverberg, T., Sahlander, F., Enlund, M., Oscarson, M. and Hardstedt, M. 2018. Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: A case report. Journal of Medical Case Reports, 12, 274.
  • Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L. H., Bhavsar, A. P., Lee, J. J., Drogemoller, B. I., Abdelsayed, M., Alfadhel, M., Armstrong, L., Baumgartner, M. R., Burda, P., Connolly, M. B., Cameron, J., Demos, M., Dewan, T., Dionne, J., Evans, A. M., Friedman, J. M., Garber, I., Lewis, S., Ling, J., Mandal, R., Mattman, A., Mckinnon, M., Michoulas, A., Metzger, D., Ogunbayo, O. A., Rakic, B., Rozmus, J., Ruben, P., Sayson, B., Santra, S., Schultz, K. R., Selby, K., Shekel, P., Sirrs, S., Skrypnyk, C., Superti-Furga, A., Turvey, S. E., Van Allen, M. I., Wishart, D., Wu, J., Wu, J., Zafeiriou, D., Kluijtmans, L., Wevers, R. A., Eydoux, P., Lehman, A. M., Vallance, H., Stockler-Ipsiroglu, S., Sinclair, G., Wasserman, W. W. and Van Karnebeek, C. D. 2016. Exome sequencing and the management of neurometabolic disorders. The New England Journal of Medicine, 374, 2246–2255.
  • Ullah, M. A., Husseni, A. M. and Mahmood, S. U. 2017. Consanguineous marriages and their detrimental outcomes in Pakistan: An urgent need for appropriate measures. International Journal of Community Medicine and Public Health, 5, 1.
  • Van Karnebeek, C. D. M. 2018. Evaluation of the child with developmental impairments. Continuum (Minneapolis, Minn.).), 24, 228–247.
  • Van Karnebeek, C., Murphy, T., Giannasi, W., Thomas, M., Connolly, M. and Stockler-Ipsiroglu, S. 2014. Diagnostic value of a multidisciplinary clinic for intellectual disability. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 41, 333–345.
  • Van Karnebeek, C. D. and Stockler, S. 2012. Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review. Molecular Genetics and Metabolism, 105, 368–381.
  • Vatanavicharn, N., Ratanarak, P., Liammongkolkul, S., Sathienkijkanchai, A. and Wasant, P. 2012. Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experience. Clinica Chimica Acta; International Journal of Clinical Chemistry, 413, 1141–1144.
  • Wang, H., Wang, X., Li, Y., Dai, W., Jiang, D., Zhang, X. and Cui, Y. 2017. Screening for inherited metabolic diseases using gas chromatography-tandem mass spectrometry (GC-MS/MS) in Sichuan, China. Biomedical Chromatography, 31, e3847.
  • Wasim, M., Awan, F. R., Khan, H. N. and Ayesha, H. 2018a. An overview of traditional and novel therapeutic options for the management of phenylketonuria. Critical Reviews in Eukaryotic Gene Expression, 28, 177–185.
  • Wasim, M., Awan, F. R., Khan, H. N., Tawab, A., Iqbal, M. and Ayesha, H. 2018b. Aminoacidopathies: Prevalence, etiology, screening, and treatment options. Biochemical Genetics, 56, 7–21.
  • Wasim, M., Khan, H. N., Ayesha, H. and Awan, F. R. 2020. Biochemical screening of intellectually disabled and healthy children in Punjab, Pakistan: Differences in liver function test and lipid profiles. International Journal of Developmental Disabilities, 66, 190–195.
  • Yi, P., Liu, L., Mei, H., Zeng, F., Huang, Z. and Niu, H. 2011. Establishment of reference range of plasma amino acids for younger Chinese children by reverse phase HPLC. Journal of Pediatric Endocrinology & Metabolism: JPEM, 24, 733–738.

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