Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman

Brain and Development

Volumn 29, Issue 9, 2007, Pages 543-546

  Joshi, Surendra Nath ^a   Venugopalan, Poothirikovil ^b  

^a SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^b University Hospital of Hartlepool   (United Kingdom)

Author keywords

Consanguinity; Cost benefit ratio; High risk screening; Inborn errors of metabolism (IEM); Neonatal; Tandem Mass Spectrometry (TMS)

Indexed keywords

ARTICLE; CARNITINE PALMITOYL TRANSFERASE 2 DEFICIENCY; CLINICAL EVALUATION; CONTROLLED STUDY; FEMALE; HMG COA LYASE DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; INFANT; ISOVALERIC ACIDEMIA; MAJOR CLINICAL STUDY; MALE; MAPLE SYRUP URINE DISEASE; METHYL MALONIC ACIDEMIA; NEWBORN; NEWBORN CARE; PREVALENCE; PROPIONIC ACIDEMIA; TANDEM MASS SPECTROMETRY; TYROSINEMIA; UREA CYCLE DISEASE;

FEMALE; HUMANS; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; OMAN; OUTCOME ASSESSMENT (HEALTH CARE); RETROSPECTIVE STUDIES; TANDEM MASS SPECTROMETRY;

EID: 34548301773     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2007.01.004     Document Type: Article

References (14)

1. Joshi S.N., Hashim J., and Venugopalan P. Pattern of inborn errors of metabolism in an Omani population of the Arabian Peninsula. Ann Trop Paediatr 22 (2002) 93-96
2. Marsden D., Larson C., and Levy H.L. Newborn screening for metabolic disorders. J Pediatr 148 (2006) 577-584
3. Millington D.S., Norwood D.L., Kodo N., Moore R., Green M.D., and Berman J. Biomedical applications of high-performance liquid chromatography-mass spectrometry with continuous-flow fast atom bombardment. J Chromatogr 562 (1991) 47-58
4. Pandor A., Eastham J., Beverley C., Chilcott J., and Paisley S. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Health Technol Assess 8 (2004) 1-121
5. Yoon H.R., Lee K.R., Kim H., Kang S., Ha Y., and Lee D.H. Tandem mass spectrometric analysis for disorders in amino, organic and fatty acid metabolism: two year experience in South Korea. Southeast Asian J Trop Med Public Health 34 Suppl. 3 (2003) 115-120
6. Wiley V., Carpenter K., Bayliss U., and Wilcken B. Newborn screening - is it really that simple?. Southeast Asian J Trop Med Public Health 34 Suppl. 3 (2003) 107-110
7. Schoen E.J., Baker J.C., Colby C.J., and To T.T. Cost-benefit analysis of universal tandem mass spectrometry for newborn screening. Pediatrics 110 (2002) 781-786
8. Millington D.S., Kodo N., Norwood D.L., and Roe C.R. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 13 (1990) 321-324
9. Kuhara T. Diagnosing 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 (2002) 497-517
10. Naylor E.W., and Chace D.H. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol 14 Suppl. 1 (1999) S4-S8
11. Zytkovicz T.H., Fitzgerald E.F., Marsden D., Larson C.A., Shih V.E., Johnson D.M., et al. Tandem mass spectrometric analysis for amino, organic and fatty acid disorders in Newborn dried blood spots: A two-year summary from the New England newborn screening program. Clin Chem 47 (2001) 1945-1955
12. Wiley V., Carpenter K., and Wilcken B. Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia. Acta Paediatr Suppl 88 (1999) 48-51
13. Shigematsu Y., Hirano S., Hata I., Tanaka Y., Sudo M., Sakura N., et al. Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J Chromatogr B Analyt Technol Biomed Life Sci 776 (2002) 39-48
14. Rashed M.S., Rahbeeni Z., and Ozand P.T. Application of electrospray Tandem Mass spectrometry to neonatal screening. Semin Perinatol 23 (1999) 183-193