Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
May-2017 Volume 13 Issue 5

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
May-2017 Volume 13 Issue 5

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article

Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine

  • Authors:
    • Xiao‑Qi Sheng
    • Yi‑Chao Wang
  • View Affiliations / Copyright

    Affiliations: Hunan Province Technical Institute of Clinical Preventive and Treatment for Children's Inherited Metabolic Disorders, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410008, P.R. China
  • Pages: 1961-1968
    |
    Published online on: March 2, 2017
       https://doi.org/10.3892/etm.2017.4167
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

The aim of the present study was to conduct preliminary clinical screening and monitoring using a novel two‑step derivatization process of urine in five categories of inherited metabolic disease (IMD). Urine samples (100 µl, containing 2.5 mmol/l creatinine) were taken from patients with IMDs. The collected urine was then treated using a two‑step derivatization method (with oximation and silylation at room temperature), where urea and protein were removed. In the first step of the derivatization, α‑ketoacids and α‑aldehyde acids were prepared by oximation using novel oximation reagents. The second‑step of the derivatization was that residues were silylated for analysis. Urine samples were examined using gas chromatography/mass spectrometry (GC/MS) and a retention time‑locking technique. The simultaneous analysis and identification of >400 metabolites in >130 types of IMD was possible from the GC/MS results, where the IMDs included phenylketonuria, ornithine transcarbamylase deficiency, neonatal intrahepatic cholestasis caused by citrin deficiency, β‑ureidopropionase deficiency and mitochondrial metabolic disorders. This method was demonstrated to have good repeatability. Considering α‑ketoglutarate (α‑KG) as an example, the relative standard deviations (RSDs) of the α‑KG retention time and peak area were 0.8 and 3.9%, respectively, the blank spiked recovery rate was between 89.6 and 99.8%, and the RSD was ≤7.5% (n=5). The method facilitates the analysis of thermally non‑stable and semi‑volatile metabolites in urine, and greatly expands the range of materials that can be synchronously screened by GC/MS. Furthermore, it provides a comprehensive, effective and reliable biochemical analysis platform for the pathological research of IMDs.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

Figure 5

View References

1 

Pampols T: Inherited metabolic rare disease. Adv Exp Med Biol. 686:397–431. 2010. View Article : Google Scholar : PubMed/NCBI

2 

Pérez B, Rodriguez-Pascau L, Vilageliu L, Grinberg D, Ugarte M and Desviat LR: Present and future of antisense therapy for splicing modulation in inherited metabolic disease. J Inherit Metab Dis. 33:397–403. 2010. View Article : Google Scholar : PubMed/NCBI

3 

Rodrigues JV, Henriques BJ, Lucas TG and Gomes CM: Cofactors and metabolites as protein folding helpers in metabolic diseases. Curr Top Med Chem. 12:2546–2559. 2012. View Article : Google Scholar : PubMed/NCBI

4 

Cassiman D: Gene transfer for inborn errors of metabolism of the liver: The clinical perspective. Curr Pharm Des. 17:2550–2557. 2011. View Article : Google Scholar : PubMed/NCBI

5 

Blau N, Duran M, Gibson KM and Dionisi-Vici C: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Springer; Heidelberg: 2014, View Article : Google Scholar

6 

Song SM, Yoon HR, Lee A and Lee KR: Seven-year experience with inherited metabolic disorders screening by tandem mass spectrometry. J Genet Med. 5:21–25. 2008.

7 

Janeckova H, Kalivodova A, Najdekr L, Friedecky D, Hron K, Bruheim P and Adam T: Untargeted metabolomic analysis of urine samples in the diagnosis of some inherited metabolic disorders. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 159:582–585. 2015.PubMed/NCBI

8 

Xiong X, Sheng X, Liu D, Zeng T, Peng Y and Wang Y: A GC/MS-based metabolomic approach for reliable diagnosis of phenylketonuria. Anal Bioanal Chem. 407:8825–8833. 2015. View Article : Google Scholar : PubMed/NCBI

9 

Kuhara T: Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry. J Chromatogr B Biomed Sci Appl. 758:3–25. 2001. View Article : Google Scholar : PubMed/NCBI

10 

Kuhara T: Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 781:497–517. 2002. View Article : Google Scholar : PubMed/NCBI

11 

Kuhara T, Ohse M, Inoue Y, Yorifuji T, Sakura N, Mitsubuchi H, Endo F and Ishimatu J: Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples. J Inherit Metab Dis. 25:98–106. 2002. View Article : Google Scholar : PubMed/NCBI

12 

Fryčák P, Lemr K, Adam T and Hušková R: Diagnostics of some inherited metabolic disorders by mass spectrometry using modern ionisation techniques. Chemicke Listy. 97:93–100. 2003.

13 

Bruheim P, Kvitvang HF and Villas-Boas SG: Stable isotope coded derivatizing reagents as internal standards in metabolite profiling. J Chromatogr A. 1296:196–203. 2013. View Article : Google Scholar : PubMed/NCBI

14 

Bouatra S, Aziat F, Mandal R, Guo AC, Wilson MR, Knox C, Bjorndahl TC, Krishnamurthy R, Saleem F, Liu P, et al: The human urine metabolome. PLoS One. 8:e730762013. View Article : Google Scholar : PubMed/NCBI

15 

Janečková H, Hron K, Wojtowicz P, Hlídková E, Barešová A, Friedecký D, Zídková L, Hornik P, Behúlová D, Procházková D, et al: Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders. J Chromatogr A. 1226:11–17. 2012. View Article : Google Scholar : PubMed/NCBI

16 

Qun G: Evaluation of automated sample preparation, retention time locked GC-MS and automated data analysis for the metabolomic study of Arabidopsis species. J Chromatogr A. 1218:3247–3254. 2010.

17 

Scher HI, Nasso SF, Rubin EH and Simon R: Adaptive clinical trial designs for simultaneous testing of matched diagnostics and therapeutics. Clin Cancer Res. 17:6634–6640. 2011. View Article : Google Scholar : PubMed/NCBI

18 

Rosser CJ, Dai Y, Miyake M, Zhang G and Goodison S: Simultaneous multi-analyte urinary protein assay for bladder cancer detection. BMC Biotechnol. 14:81–89. 2013.

19 

Wang YC: A two-step derivatization on simultaneous analysis for organic acids, fatty acids, amino acid, carbohydrates, pyrimidines, and purines in complicated organic compounds. CN patent ZL201210114246.2. Filed April 18, 2012; issued December 18, 2013.

20 

Xiong X, Liu D, Wang Y, Zeng T and Peng Y: Urinary 3-(3-hydroxyphenyl)-3-hydroxypropionic acid, 3-hydroxyphenylacetic acid, and 3-hydroxyhippuric acid are elevated in children with autism spectrum disorders. Biomed Research International. 2016:94854122016. View Article : Google Scholar : PubMed/NCBI

21 

Blau N, Duran M, Blaskovics ME and Gibson MK: Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. 2nd. Chapman and Hall Medical; London: 1996

22 

Xiong X, Liu D, Wang Y, Zeng T and Peng Y: Urinary 3-(3-hydroxyphenyl)-3-hydroxypropionic acid, 3-hydroxyphenylacetic acid, and 3-hydroxyhippuric acid are elevated in children with autism spectrum disorders. BioMed Res Int. 2016:1–8. 2016. View Article : Google Scholar

23 

Trujillano D, Perez B, González J, Tornador C, Navarrete R, Escaramis E, Ossowski S, Armengol L, Cornejo V, Desviat LR, et al: Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. Eur J Hum Genet. 22:528–534. 2014. View Article : Google Scholar : PubMed/NCBI

24 

Setoodeh A, Yarali B, Rabbani A, Khatami S and Shams S: Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran. Mol Genet Metab Rep. 2:77–79. 2015. View Article : Google Scholar

25 

Okano Y, Kudo S, Nishi Y, Sakaguchi T and Aso K: Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan. J Hum Genet. 56:306–312. 2011. View Article : Google Scholar : PubMed/NCBI

26 

Yaplito-Lee J, Chow CW and Boneh A: Histopathological findings in livers of patients with urea cycle disorders. Mol Genet Metab. 108:161–165. 2013. View Article : Google Scholar : PubMed/NCBI

27 

Nagasaka H, Yorifuji T, Egawa H, Inui A, Fujisawa T, Komatsu H, Tsukahara H, Uemoto S and Inomata Y: Characteristics of NO cycle coupling with urea cycle in non-hyperammonemic carriers of ornithine transcarbamylase deficiency. Mol Genet Metab. 109:251–254. 2013. View Article : Google Scholar : PubMed/NCBI

28 

Mukhtar A, Dabbous H, El Sayed R, Aboulfetouh F, Bahaa M, Abdelaal A, Fathy M and El-Meteini M: A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient. Am J Transplant. 13:1084–1087. 2013. View Article : Google Scholar : PubMed/NCBI

29 

Paine SM, Grünewald S and Jacques TS: Antenatal neurodevelopmental defects in ornithine transcarbamylase deficiency. Neuropathol Appl Neurobiol. 38:509–512. 2012. View Article : Google Scholar : PubMed/NCBI

30 

Mhanni AA, Prasad C and Rockman-Greenberg C: Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood. Pediatr Emerg Care. 27:850–853. 2011. View Article : Google Scholar : PubMed/NCBI

31 

Swarts L, Leisegang F, Owen EP and Henderson HE: An OTC deficiency ‘phenocopy’ in association with Klinefelter syndrome. J Inherit Metab Dis. 30:1012007. View Article : Google Scholar : PubMed/NCBI

32 

Wang LL, Morizono H, Lin JP, Bell P, Jones D, McMenamin D, Yu HW, Batshaw ML and Wilson JM: Preclinical evaluation of a clinical candidate AAV8 vector for Ornithine Transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome. Mol Genet Metab. 105:203–211. 2012. View Article : Google Scholar : PubMed/NCBI

33 

Vaidyanathan K: Molecular diagnosis of urea cycle disorders: Current global scenario. Indian J Biochem Biophys. 50:357–362. 2013.PubMed/NCBI

34 

Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, et al: The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet. 22:159–163. 1999. View Article : Google Scholar : PubMed/NCBI

35 

Contreras L, Gomez-Puertas P, Iijima M, Kobayashi K, Saheki T and Satrustegui J: Ca2+ Activation kinetics of the two aspartate-glutamate mitochondrial carriers, aralar and citrin: Role in the heart malate-aspartate NADH shuttle. J Biol Chem. 282:7098–7106. 2007. View Article : Google Scholar : PubMed/NCBI

36 

Saheki T, Iijima M, Li MX, Kobayashi K, Horiuchi M, Ushikai M, Okumura F, Meng XJ, Inoue I, Tajima A, et al: Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency. J Biol Chem. 282:25041–25052. 2007. View Article : Google Scholar : PubMed/NCBI

37 

Song YZ, Li BX, Chen FP, Liu SR, Sheng JS, Ushikai M, Zhang CH, Zhang T, Wang ZN, Kobayashi K, et al: Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China. Dig Liver Dis. 41:683–689. 2009. View Article : Google Scholar : PubMed/NCBI

38 

Yamaguchi N, Kobayashi K, Yasuda T, Nishi I, Iijima M, Nakagawa M, Osame M, Kondo I and Saheki T: Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Hum Mutat. 19:122–130. 2002. View Article : Google Scholar : PubMed/NCBI

39 

Zhang MH, Gong JY and Wang JS: Citrin deficiency presenting as acute liver failure in an eight-month-old infant. World J Gastroenterol. 21:7331–7334. 2015.PubMed/NCBI

40 

Wang LY, Chen NI, Chen PW, Chiang SC, Hwu WL, Lee NC and Chien YH: Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests. BMC Med Genet. 14:1–6. 2013. View Article : Google Scholar : PubMed/NCBI

41 

Wert SE, Whitsett JA and Nogee LM: Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 12:253–274. 2009. View Article : Google Scholar : PubMed/NCBI

42 

Chen BC, Rawi Mohd R, Meinsma R, Meijer J, Hennekam RC and van Kuilenburg AB: Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings. Mol Syndromol. 5:299–303. 2014. View Article : Google Scholar : PubMed/NCBI

43 

Chang HS, Shibata T, Arai S, Zhang CH, Yabuki A, Mitani S, Higo T, Sunagawa K, Mizukami K and Yamato O: Dihydropyrimidinase deficiency: The first feline case of dihydropyrimidinuria with clinical and molecular findings. JIMD Rep. 6:21–26. 2012. View Article : Google Scholar : PubMed/NCBI

44 

Micheli V, Camici M, Tozzi MG, Ipata PL, Sestini S, Bertelli M and Pompucci G: Neurological disorders of purine and pyrimidine metabolism. Curr Top Med Chem. 11:923–947. 2011. View Article : Google Scholar : PubMed/NCBI

45 

Porcu S, Corda M, Lilliu F, Contini L, Era B, Traldi P and Fais A: Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria. Clin Chim Acta. 411:853–858. 2010. View Article : Google Scholar : PubMed/NCBI

46 

Nakajima Y, Meijer J, Dobritzsch D, Ito T, Meinsma R, Abeling NGG, Roelofsen J, Zoetekouw L, Watanabe Y, Tashiro K, et al: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G>A (p.R326Q) mutation. J Inherit Metab Dis. 37:801–812. 2014. View Article : Google Scholar : PubMed/NCBI

47 

Jurecka A: Inborn errors of purine and pyrimidine metabolism. J Inherit Metab Dis. 32:247–263. 2009. View Article : Google Scholar : PubMed/NCBI

48 

Balasubramaniam S, Duley JA and Christodoulou J: Inborn errors of pyrimidine metabolism: clinical update and therapy. J Inherit Metab Dis. 37:687–698. 2014. View Article : Google Scholar : PubMed/NCBI

49 

Ruhoy IS and Saneto RP: The genetics of Leigh syndrome and its implications for clinical practice and risk management. Appl Clin Genet. 7:221–234. 2014.PubMed/NCBI

50 

Honzik T, Tesarova M, Vinsova K, Hansikova H, Magner M, Kratochvilova H, Zamecnik J, Zeman J and Jesina P: Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene. Mol Genet Metab. 108:102–105. 2013. View Article : Google Scholar : PubMed/NCBI

51 

Hejzlarová K, Kaplanová V, Nůsková H, Kovářová N, Ješina P, Drahota Z, Mráček T, Seneca S and Houštěk J: Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation. Biochem J. 466:601–611. 2015. View Article : Google Scholar : PubMed/NCBI

52 

Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, et al: The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet. 40:188–191. 2003. View Article : Google Scholar : PubMed/NCBI

53 

Kara B, Arikan M, Maraş H, Abacı N, Cakıris A and Ustek D: Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene. Mol Genet Metab. 107:389–393. 2012. View Article : Google Scholar : PubMed/NCBI

54 

Anglin RE, Garside SL, Tarnopolsky MA, Mazurek MF and Rosebush PI: The psychiatric manifestations of mitochondrial disorders: A case and review of the literature. J Clin Psychiatry. 73:506–512. 2012. View Article : Google Scholar : PubMed/NCBI

55 

Hulgan T, Haubrich R, Riddler SA, Tebas P, Ritchie MD, McComsey GA, Haas DW and Canter JA: European mitochondrial DNA haplogroups and metabolic changes during antiretroviral therapy in AIDS Clinical Trials Group Study A5142. AIDS. 25:37–47. 2011. View Article : Google Scholar : PubMed/NCBI

56 

Xiao MT, Yang H, Xu W, Ma SH, Lin HP, Zhu HG, Liu LX, Liu Y, Yang C, Xu YH, et al: Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors. Genes Dev. 29:1326–1338. 2012. View Article : Google Scholar

57 

MacKenzie ED, Selak MA, Tennant DA, Payne LJ, Crosby S, Frederiksen CM, Watson DG and Gottlieb E: Cell-permeating α-ketoglutarate derivatives alleviate pseudohypoxia in succinate dehydrogenase-deficient cells. Mol Cell Biol. 27:3282–3289. 2007. View Article : Google Scholar : PubMed/NCBI

58 

Leonardi R, Subramanian C, Jackowski S and Rock CO: Cancer-associated isocitrate dehydrogenase mutations inactivate NADPH-dependent reductive carboxylation. J Biol Chem. 287:14615–14620. 2012. View Article : Google Scholar : PubMed/NCBI

59 

Baughn AD, Garforth SJ, Vilchèze C and Jacobs WR Jr: An anaerobic-type alpha-ketoglutarate ferredoxin oxidoreductase completes the oxidative tricarboxylic acid cycle of Mycobacterium tuberculosis. PLoS Pathog. 5:e10006622009. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Sheng XQ and Wang YC: Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine. Exp Ther Med 13: 1961-1968, 2017.
APA
Sheng, X., & Wang, Y. (2017). Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine. Experimental and Therapeutic Medicine, 13, 1961-1968. https://doi.org/10.3892/etm.2017.4167
MLA
Sheng, X., Wang, Y."Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine". Experimental and Therapeutic Medicine 13.5 (2017): 1961-1968.
Chicago
Sheng, X., Wang, Y."Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine". Experimental and Therapeutic Medicine 13, no. 5 (2017): 1961-1968. https://doi.org/10.3892/etm.2017.4167
Copy and paste a formatted citation
x
Spandidos Publications style
Sheng XQ and Wang YC: Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine. Exp Ther Med 13: 1961-1968, 2017.
APA
Sheng, X., & Wang, Y. (2017). Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine. Experimental and Therapeutic Medicine, 13, 1961-1968. https://doi.org/10.3892/etm.2017.4167
MLA
Sheng, X., Wang, Y."Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine". Experimental and Therapeutic Medicine 13.5 (2017): 1961-1968.
Chicago
Sheng, X., Wang, Y."Novel two-step derivation method for the synchronous analysis of inherited metabolic disorders using urine". Experimental and Therapeutic Medicine 13, no. 5 (2017): 1961-1968. https://doi.org/10.3892/etm.2017.4167
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team