Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: Study in high-risk Indian population

Clinical Biochemistry

Volumn 43, Issue 6, 2010, Pages 581-588

  Nagaraja, Dindagur ^a   Mamatha, Sopanahalli Narasimhamurthy ^a   De, Tanima ^a   Christopher, Rita ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

Acylcarnitines; Amino acids; Inborn errors of metabolism; Selective screening; Tandem mass spectrometry

Indexed keywords

ACYLCARNITINE; AMINO ACID;

ACIDEMIA; AMINO ACID ANALYSIS; AMINOACIDEMIA; ARTICLE; AUTOMATION; BIRTH RATE; BLOOD SAMPLING; CHEMICAL ANALYSIS; CHILD; COMPUTER ASSISTED DIAGNOSIS; CONSANGUINEOUS MARRIAGE; DEVELOPING COUNTRY; ELECTROSPRAY MASS SPECTROMETRY; FATTY ACID OXIDATION; FEMALE; GENETIC DISORDER; HIGH RISK POPULATION; HUMAN; INBORN ERROR OF METABOLISM; INDIA; INDIAN; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; SCREENING; SENSITIVITY AND SPECIFICITY; SYMPTOM; TANDEM MASS SPECTROMETRY;

AUTOMATION, LABORATORY; BLOOD CHEMICAL ANALYSIS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; HUMANS; INDIA; INFANT; INFANT, NEWBORN; MALE; MASS SCREENING; METABOLISM, INBORN ERRORS; POPULATION; RISK FACTORS; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TANDEM MASS SPECTROMETRY;

EID: 77950863577     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2009.12.009     Document Type: Article

References (18)

1. Garrod A.G. Inborn errors of metabolism 1909, Oxford University Press, Oxford.
2. Scriver C.R., Beaudet L., Sly W.S., Valle D. The metabolic and molecular bases of inherited disease 2001, McGraw-Hill, New York. 8th ed.
3. Millington D.S., Kodo N., Norwood D.L., 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. 1990, 13:321-324.
4. Schulze A., Linder M., Kohlmuller D., et al. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcomes and implications. Pediatrics 2003, 11:1399-1406.
5. 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.
6. zoppa M., Gallo L., Zacchello F., Giordano G. Method for the quantification of underivatized amino acids on dry blood spots from newborn screening by HPLC-ESI-MS/MS. J. Chromatogr., B 2006, 831:267-273.
7. Verma I.C., Bijarnia S. The burden of genetic disorders in India and a framework for community control. Community Genet. 2002, 5:192-196.
8. http://www.nationmaster.com/encyclopedia/South-India.
9. Wilcken B., Wiley V., Hammond J., Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N. Engl. J. Med. 2003, 348:2304-2312.
10. Han L.S., Qiu J., Ye 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.
11. Gu X.F., Han L.S., Gao X.L., et al. A pilot study of selective screening for high risk children with inborn errors of metabolism using tandem mass spectrometry in China. Zhonghua ErKe ZaZhi 2004, 42:401-404.
12. Yoon H.R., Lee K.R., Kang S., et al. Screening of newborn and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report. Clin. Chim. Acta 2005, 354:167-180.
13. Krishnamurthy S., Audinarayana N. Trends in consanguinity in South India. J. Biosoc. Sci. 2001, 33:185-197.
14. Lukacs Z., Sante Rr. Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders. Mol. Nutr. Food Res. 2006, 50:443-450.
15. Stanley C.A. Carnitine disorders. Adv. Pediatr. 1995, 42:209-242.
16. Rashed M.S. Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases. J. Chromatogr., B 2001, 758:27-48.
17. Leonard J.V. Treatment of inborn errors of metabolism: a review. J. Inherit. Metab. Dis. 2006, 29:275-278.
18. Christopher R., Bindu P.S. A biochemical insight into the inborn errors of metabolism for a clinical neurologist. Ann. Ind. Acad. Neurol. 2008, 11:68-81.