The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry

Clinica Chimica Acta

Volumn 412, Issue 13-14, 2011, Pages 1270-1274

  Sun, Weihua ^a   Wang, Yi ^a   Yang, Yi ^a   Wang, Jianshe ^a   Cao, Yun ^a   Luo, Feihong ^a   Lu, Wei ^a   Peng, Yongmei ^a   Yao, Haili ^a   Qiu, Penglin ^a  

^a CHILDREN S HOSPITAL OF FUDAN UNIVERSITY   (China)

Author keywords

Dried blood spot; Inborn errors of metabolism; Sick infants; Urine

Indexed keywords

ACYLCARNITINE; AMINO ACID; CARBOXYLIC ACID;

ADOLESCENT; ARTICLE; BLOOD EXAMINATION; CHINESE; DIAGNOSTIC ACCURACY; DRIED BLOOD SPOT; FATTY ACID OXIDATION; HUMAN; HUMAN TISSUE; HYPERPHENYLALANINEMIA; INBORN ERROR OF METABOLISM; INFANT; INTRAHEPATIC CHOLESTASIS; MAJOR CLINICAL STUDY; MASS FRAGMENTOGRAPHY; METHYLMALONIC ACIDEMIA; NEWBORN; PREVALENCE; PRIORITY JOURNAL; SCREENING; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; TYROSINEMIA; UREA CYCLE DISORDER; URINALYSIS;

ADOLESCENT; AMINO ACIDS; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FATTY ACIDS; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; OXIDATION-REDUCTION; TANDEM MASS SPECTROMETRY;

EID: 79955476700     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2011.03.028     Document Type: Article

References (15)

1. Chace D.H., Kalas T.A. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin Biochem 2005, 38:296-309.
2. 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 2002, 781:497-517.
3. Han L.S., Ye J., Qiu W.J., Gao X.L., Wang Y., Gu X.F. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report. J Inherit Metab Dis 2007, 30:507-514.
4. Song Y.Z., Li B.X., Hao H., Xin R.L., Zhang T., Zhang C.H., et al. Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China. Clin Biochem 2008, 41:616-620.
5. Chace D.H., Lim T., Hansen C.R., De Jesus V.R., Hannon W.H. Improved MS/MS analysis of succinylacetone extracted from dried blood spot when combined with amino acids and acylcarnitine butyl esters. Clin Chim Acta 2009, 407:6-9.
6. Hori D., Hasegawa Y., Kimura M., Yang Y., Verma I.C., Yamaguchi S. Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. Brain Dev 2005, 27(1):39-45.
7. Zschocke Johannes, Hoffmann Georg F. Vademecum etabolicum 2004, Heidelberg, Germany. Second Ed.
8. Hedlund G.L., Longo N., Pasquali M. Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet 2006, 142C(2):86-94.
9. Okuyaz C., Ezgü F.S., Biberoglu G., Zeviani M., Tiranti V., Yilgör E. Severe infantile hypotonia with ethylmalonic aciduria: case report. J Child Neurol Jun 2008, 23:703-705.
10. Vockley J., Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 2006, 142C:95-103.
11. Lu Y.B., Kobayashi K., Ushikai M., Tabata A., Iijima M., Li M.X., et al. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. J Hum Genet 2005, 50:338-346.
12. Scott C.R. The genetic tyrosinemias. Am J Med Genet C Semin Med Genet 2006, 142C:121-126.
13. Kuhara T. Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism. J Chromatogr B Analyt Technol Biomed Life Sci 2007, 855:42-50.
14. Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis 2010, 33:501-506.
15. Debray F.G., Lambert M., Mitchell G.A. Disorders of mitochondrial function. Curr Opin Pediatr 2008, 20:471-482.