Abstract
Inherited metabolic disorders are a heterogeneous group of genetic conditions mostly occurring in childhood. They are individually rare but collectively numerous, causing substantial morbidity and mortality. We have retrospectively reviewed a total of eight hundred and sixty nine cases with different age groups that had been referred from several diagnostic centers and hospitals of India to the Department of Metabolism in Narayana Hrudayalaya, as cases suspected with inborn errors of metabolism. Advanced techniques applied were to diagnose the disorders of inborn errors of metabolism. Data analyzed indicates occurrence of several metabolic disorders in our population. The need to screen for an inborn error of metabolism arises out of the fact that most cases take to irreversible effects as time progress. Emphasis has to be laid on early detection and prompt management, which could help in alleviating symptoms and preventing complications and consequent incapacitation.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Choudhuri T, Sengupta S. Inborn errors of metabolism-An Indian Perspective. Int J Hum Genet 2006; 6(1): 89–91.
Burton BK. Inborn errors of metabolism in infancy: A guide to diagnosis. Pedia 1998; 102(6): E69.
Millington D, Koberl D. Metabolic Screening in the Newborn. Growth Genetics & Hormones 2003; 19(3): 33–38.
Applegarth DA, Toone JR, Lowry RB. Incidence of Inborn errors of metabolism in British Columbia. Pedia 2000; 105(1): E10.
Sanderson S, Green A, Preece MA, Burton H. The incidence of inherited metabolic disorders in the west midlands UK. Arch Dis Child 2006; 91(11): 869–899.
Ward JC. Inborn errors of metabolism of acute onset in infancy. Pediatr Rev. 1990; 11(7): 205–216.
Lyon G, Adams RD, Kolodny EH editors. Neurology of Hereditary metabolic diseases of children, 2ed., New York: Mc-Graw Hill 1996:151–161pp.
Kayton A. Newborn screening: a literature review. Neonatal network: NN 2007; 26(2): 85–95.
Dominic M Desiderio. Modern Analytical Chemistry Mass Spectrometry: Clinical and Biomedical Applications, Springerlink, 1994: 260pp.
Richard BE, Jenson HB. Kliegman RM editors. Nelson Textbook of Pediatrics, 16 ed. Harcourt Asia, 2000: 343–44pp.
Yardi N, Jalan A. Clinical spectrum of non-ketotic hyperglycinemia (Glycine encephalopathy) in children. Neurol Asia 2004; 9(Supl 1): 100.
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 Med J/Rev Paul Med 2001; 119(5): 160–164.
John F, O’Brien. Inborn Errors of Amino Acid, Organic Acid and Fatty Acid Metabolism. In: Burtis CA, Ashwood ER, Tietz VW editors. Teitz Textbook of Clinical Chemistry, 3ed. New Delhi: Elsevier 1986; 2208: 1777.
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic Basis of Inherited disease, 7th ed. New York: Mc Graw — Hill 2001: 425–452.
Verma IC, Saxena R, Lall M, Bijarnia S, Sharma R. Genetic counseling and prenatal diagnosis in India- experience at Sir Ganga Ram Hospital. Ind J Pedia 2003; 70(4): 293–297.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Rao, A.N., Kavitha, J., Koch, M. et al. Inborn errors of metabolism: Review and data from a tertiary care center. Indian J Clin Biochem 24, 215–222 (2009). https://doi.org/10.1007/s12291-009-0041-y
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12291-009-0041-y