The urinary metabolomics profile of an Italian autistic children population and their unaffected siblings

Journal of Maternal-Fetal and Neonatal Medicine

Volumn 27, Issue , 2014, Pages 46-52

  Noto, Antonio ^a   Fanos, Vassilios ^a   Barberini, Luigi ^a   Grapov, Dmitry ^b   Fattuoni, Claudia ^a   Zaffanello, Marco ^c   Casanova, Andrea ^a   Fenu, Gianni ^a   De Giacomo, Andrea ^d   De Angelis, Maria ^d   Moretti, Corrado ^e   Papoff, Paola ^e   Ditonno, Raffaella ^d   Francavilla, Ruggiero ^d  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF VERONA   (Italy)

^d UNIVERSITY OF BARI   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

ASD; GC MS; Network driven medicine

Indexed keywords

3 (3 HYDROXYPHENYL) 3 HYDROXYPROPANOIC ACID; 3,4 DIHYDROXYBUTYRIC ACID; 4 HYDROXYPHENYLACETIC ACID; ACONITIC ACID; CARBOXYLIC ACID; GLYCINE; GLYCOLIC ACID; HOMOVANILLIC ACID; PHENYLALANINE; TYROSINE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTISM; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; GAS CHROMATOGRAPHY; HUMAN; ITALY; MASS SPECTROMETRY; METABOLOMICS; SIBLING; URINALYSIS; FEMALE; MALE; MASS FRAGMENTOGRAPHY; METABOLOME; PRESCHOOL CHILD; PROCEDURES; REGRESSION ANALYSIS; SENSITIVITY AND SPECIFICITY; URINE;

ADOLESCENT; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; ITALY; LEAST-SQUARES ANALYSIS; MALE; METABOLOME; METABOLOMICS; SENSITIVITY AND SPECIFICITY; SIBLINGS;

EID: 84911907714     PISSN: 14767058     EISSN: 14764954     Source Type: Journal    
DOI: 10.3109/14767058.2014.954784     Document Type: Article

References (35)

1. The U.S. Centers for Disease Control and Prevention. Morbidity and Mortality Weekly Report, March 30, 2012.
2. Ming X, Stein TP, Barnes V, et al. Metabolic perturbance in autism spectrum disorders: a metabolomics study. J Proteom Res 2012;11: 5856-62.
3. Shaw W. Increased urinary excretion of a 3-(3-hydroxyphenyl)-3-hydroxypropionic acid (HPHPA), an abnormal phenylalanine metabolite of Clostridia spp. in the gastrointestinal tract, in urine samples from patients with autism and schizophrenia. Nutr Neurosci 2010;13:135-43.
4. Yap IKS, Angley M, Veselkov KA, et al. Urinary metabolic phenotyping differentiates children with autism from their unaffected siblings and age-matched controls. J Proteom Res 2010;9: 2996-3004.
5. Emond P, Mavel S, Aidoud N, et al. GC-MS-based urine metabolic profiling of autism spectrum disorder. Anal Bioanal Chem 2013; 405:5291-300.
6. Naushad SM, Jain JM, Prasad CK, et al. Autistic children exhibit distinct plasma amino acid profile. Indian J Biochem Bio 2013;50: 474-8.
7. De Angelis M, Piccolo M, Vannini L, et al. Fecal microbiota and metabolome of children with autism and pervasive developmental disorder not otherwise specified. PLOS ONE 2014;8:1-18.
8. Roberts AL, Lyall K, Hart JE, et al. Perinatal air pollutant exposures and autism spectrum disorder in the children of nurses' health study II participants. Environ Health Perspect 2013;121: 978-85.
9. Amminger GP, Berger GE, Schäfer MR, et al. Omega-3 fatty acids supplementation in children with autism: a double-blind randomized, placebo-controlled pilot study. Biol Psychiat 2007;61: 551-3.
10. Schmidt RJ, Tancredi DJ, Ozonoff S, et al. Maternal periconcep-tional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study. Am J Clin Nutr 2012;96:80-9.
11. Semmar N. Computational metabolomics. Hauppauge (NY): Nova Science Publishers; 2011.
12. Pinto RC, Trygg J, Gottfries J. Advantages of orthogonal inspection in chemometrics. J Chemometr 2012;26:231-5.
13. Lord C, Rutter M, DiLavore PC, Risi S. Autism diagnostic observation schedule. Los Angeles: Western Psychological Services; 2001.
14. AMDIS (Automated Mass Spectral Deconvolution and Identification System). Stein SE; 2010 January 28. Available from: http://chemdata.nist.gov/mass-spc/amdis/[last accessed 10 Jul 2014].
15. R Development Core Team 2011. R: a language and environment for statistical computing. R Foundation for Statistical Computing ISBN 3-900051-900007-900050. Available from: http://www. R-project.org/[last accessed 10 Jul 2014].
16. Kanehisa M, et al. KEGG for integration and interpretation of large-scale molecular data sets. Nucleic Acids Res 2012;40: D109-14.
17. National Center for Biotechnology Information. PubChem Compound Database. Available from: http://pubchem.ncbi.nlm. nih.gov.
18. Grapov D. MetaMapR: an R package for biological network mapping, version 1.2.1. Available from: https://github.com/dgra-pov/MetaMapR.
19. Svensson O, Kourti T, MacGregor JF. A comparison of orthogonal signal correction algorithms and characteristics. J Chemometr 2002;16:176-88.
20. HMDB (Human Metabolome DataBase). Release 3.0 September, 2012. Available from: http://www.hmdb.ca/[last accessed 10 Jul 2014].
21. Dyck LE, Kazakoff CW, Dourish CT. The role of catecholamines, 5-hydroxytryptamine and m-tyramine in the behavioral effects of m-tyrosine in the rat. Eur J Pharmacol 1982;84:139-49.
22. Milliner DS. The primary hyperoxalurias: an algorithm for diagnosis. Am J Nephrol 2005;25:154-60.
23. Shinkaa T, Inouea Y, Ohsea M, et al. Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency. J Chromatogr B 2002; 776:57-63.
24. Pearl PL, Gibson KM, Acosta MT, et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology 2003; 60:1413-17.
25. Pearl PL, Dorsey AM, Barrios ES, et al. Succinic semialdehyde dehydrogenase deficiency. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2004 (Updated 2013 Sep 19):1993-2014.
26. De Koning TJ, Snell K, Duran M, et al. L-Serine in disease and development. Biochem J 2003;371:653-61.
27. Waziri R, Wilcox J, Sherman AD, Mott J. Serine metabolism and psycosis. Psychiat Res 1984;12:121-36.
28. Levy, HL. Hartnup disorder. In: Scriver CR, ed. The metabolic and molecular bases of inherited disease. New York: McGraw Hill; 2001:4957-69.
29. Van Buskirk JJ, Kirsch WM, Kleyer DL, et al. Aminomalonic acid: identification in Escherichia coli and atherosclerotic plaque. Proc Natl Acad Sci USA 1984;81:722-5.
30. Copley SD, Frank E, Kirsch WM, Koch TH. Detection and possible origins of aminomalonic acid in protein hydrolysates. Anal Biochem 1992;201:152-7.
31. Jacobs DM, Spiesser L, Garnier M, et al. SPE-NMR metabolite sub-profiling of urine. Anal Bioanal Chem 2012;404:2349-61.
32. Huck JH, Verhoeven NM, Struys EA, et al. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy Am J Hum Genet 2004;74:745-51.
33. Anderson RL, Allison DP. Purification and characterization of D-lyxose isomerase. J Bio Chem 1965;210:2367-72.
34. Kril JJ. Neuropathology of thiamine deficiency disorders. Metab Brain Dis 1996;11:9-17.
35. De Angelis M, Piccolo M, Vannini L, et al. Fecal microbiota and metabolome of children with autism and pervasive developmental disorder not otherwise specified. PLoS ONE 2013;8: e76993.