• Preeti Sharma Santosh University, Gaziabad, India


Inborn errors of metabolism (IEM) are a group of disorders arising from inherited errors of biological pathways, which can be of Intoxication type (accumulation of intermediates of metabolism) or energy deficiency type pathways1. Certain pathological alterations in normal catabolic path of aminoacids, carbohydrates, lipids or biogenic amine often result in abnormal excretion pattern of organic metabolites that are normally absent or present in very small concentration2. These IEM currently in human beings exceed 500. Out of them 100 alone are the errors of aminoacids metabolism. Among these Phenylketonuria and Maple Syrup Urine Diseases are severely inherited3. GC-MS in itself is invaluable tool in the field of IEM. Gas Chromatography coupled with mass spectrometry (GC-MS) is typically used to quantify and identify primarily nonpolar metabolites influencing the practice which are less than 1 KD in mass. GC/MS combines the separating power of Gas Chromatography (GC), with the detection power of mass spectrometry.


Download data is not yet available.

Author Biography

Preeti Sharma, Santosh University, Gaziabad, India

Asst.Professor, Department of Biochemistry.



Matsumoto I., Khurana T. A new chemical diagnostic method for Inborn errors of metabolism by mass spectrometry- Rapid, practical and simultaneous urinary metabolites analysis.Mass Spectrometry Reviews 1996, 15, 43-57.

Culea M, Chiriac M., Culea E., Lehene C., Iordache A. ID-GC-MS diagnosis of metabolic disease,Romanian J. Biophys., 2007, 17, 169–175.

Cor nelia M, Andreeda I. Che, Cozar O, Cosma C. Diagnosis by mass spectrometry Romanian J. Biophys., Vol. 20, No. 71–82, Buchrest 2010

Scriver C. R., Rosenberg, L.E. Aminoacid Metabolism and its disorders. Vol. 10 in the series of major problems in clinical pediatrics 1987, 290-337

Bridget Wilcken, Varonica Wiley, Judith Hammond, Kevin Carpentewr N Eng. J. Med. 2003, 348, 2304-12

Garrod A. E. Incidence of alkaptonuria; a Study in chemical individuality Lancet Dec 1992, 13, 1616-20

Millington D, Koberl D. Metabolic Screening in the Newborn.Growth Genetics & Hormones 2003, 19(3), 33-8.

Oliveneira AC, Nunes AM, Martins AM, Almedia VD.Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause. Sao Paulo MedJ/Rev Paul Med 2001; 119(5): 160-4.

Guthrie R., Susi A., A simple phenylalanine method for detecting phenylketonuria in large populations of new born infants Pediatr. 1963, 32, 338-343

Chas D. H. Mass spectrometry in clinical laboratory Chem. Rev. 2001, 101, 445-447

Tanaka K., Budd M. A., Efron M. L., Essel Batcher K. J. isovaleric academia: A new genetic defect of leucine metabolism Proc.Natl. Acad. Sci. USA 1966, 56, 236-242

Shoemaker JD et al Automated screening of urine samples for arbohydrates, organic acids after treatment with urease J. Chromatogr.1991, 562, 125-38

Kuhara T, Shinka T, Inoue Y, Matsumoto M, Ning C, Zhang C, Furumoto T, Matsumoto I. Application of a new analytical procedure using GC / MS to the mass screening of metabolic disorders–Simultenous urinary metabolites analysis.Proc Jap Soc Biomed Mass Spectrom, 1996, 21: 73–82

Culea, Monica, Cozar O., Pintea A. ID-GCMS as a tool for diagnosis of inborn error of metabolism Bulletin USAMV-CN, 2007,64, 1-2

Verma IC. Indian J Pediatr. 2000, 67, 12

Singhvi U. Diwakar K.K., Isn’t it time to start universal Screening of Newborns in India for Congenital Hypothyroidism ? Indian Pediatr , 2008, Vol.45, 4- 33

Arias A. et al method for diagnosing creatine deficiency syndrome a comparative study J. Neuroscience. Methods 2006, 156, 305-309

Carter S.M. et al measurement of urinary mediam chain acyl glycine by gas chromatography- negative ion chemical ionization mass spectr4ometry J. Pharma. Biomed Analysis 1991, 9, 969-975.

Duran, A., nd L. Wang, J.Y., Sumner, L.: Metabolomics spectral formatting, alignment and conversion tools MSFACTS. Bioinformatics 19, 17, 2003, 2283–2293

Hanson, M., Andersen, B., Smedsgaard, J. Automated and unbiased classification of chemical profiles from fungi using high performance liquid chromatography. Journal of Microbiological Methods 61, 2005, 295–304

Guillo, C., Barlow, D., Perrett, D., Hanna-Brown, M.: Micellar electrokinetic capillary chromatography and data alignment analysis: a new tool in urine profiling. Journal of Chromatography A 1027, 2004, 203–212



How to Cite

Sharma, P., P. . KUMAR, R. . SHARMA, and D. . PS. “INBORN ERRORS OF METABOLISM SCREENING AND SCOPE OF GC-MS; A REVIEW”. Asian Journal of Pharmaceutical and Clinical Research, vol. 8, no. 1, Jan. 2015, pp. 34-36,



Review Article(s)

Most read articles by the same author(s)

1 2 3 > >>