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.
Key Words: Inborn errors of metabolism, Aminoacidopathies, Organic acidemia, Carbohydrate metabolic defect
Full Text
The Full Text of this article is available as a PDF (89.0 KB).
References
- 1.Choudhuri T., Sengupta S. Inborn errors of metabolism-An Indian Perspective. Int J Hum Genet. 2006;6(1):89–91. [Google Scholar]
- 2.Burton B.K. Inborn errors of metabolism in infancy: A guide to diagnosis. Pedia. 1998;102(6):E69. doi: 10.1542/peds.102.6.e69. [DOI] [PubMed] [Google Scholar]
- 3.Millington D., Koberl D. Metabolic Screening in the Newborn. Growth Genetics & Hormones. 2003;19(3):33–38. [Google Scholar]
- 4.Applegarth D.A., Toone J.R., Lowry R.B. Incidence of Inborn errors of metabolism in British Columbia. Pedia. 2000;105(1):E10. doi: 10.1542/peds.105.1.e10. [DOI] [PubMed] [Google Scholar]
- 5.Sanderson S., Green A., Preece M.A., Burton H. The incidence of inherited metabolic disorders in the west midlands UK. Arch Dis Child. 2006;91(11):869–899. doi: 10.1136/adc.2005.091637. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 6.Ward J.C. Inborn errors of metabolism of acute onset in infancy. Pediatr Rev. 1990;11(7):205–216. doi: 10.1542/pir.11-7-205. [DOI] [PubMed] [Google Scholar]
- 7.Lyon G., Adams R.D., Kolodny E.H., editors. Neurology of Hereditary metabolic diseases of children. New York: Mc-Graw Hill; 1996. pp. 151–161. [Google Scholar]
- 8.Kayton A. Newborn screening: a literature review. Neonatal network: NN. 2007;26(2):85–95. doi: 10.1891/0730-0832.26.2.85. [DOI] [PubMed] [Google Scholar]
- 9.Dominic M Desiderio. Modern Analytical Chemistry Mass Spectrometry: Clinical and Biomedical Applications, Springerlink, 1994: 260pp.
- 10.Richard BE, Jenson HB. Kliegman RM editors. Nelson Textbook of Pediatrics, 16 ed. Harcourt Asia, 2000: 343–44pp.
- 11.Yardi N., Jalan A. Clinical spectrum of non-ketotic hyperglycinemia (Glycine encephalopathy) in children. Neurol Asia. 2004;9(Supl1):100. [Google Scholar]
- 12.Oliveneira A.C., Nunes A.M., Martins A.M., Almedia V.D. 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. doi: 10.1590/S1516-31802001000500002. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 13.John F., O’Brien . Inborn Errors of Amino Acid, Organic Acid and Fatty Acid Metabolism. In: Burtis C.A., Ashwood E.R., Tietz V.W., editors. Teitz Textbook of Clinical Chemistry. 3ed. New Delhi: Elsevier; 1986. p. 1777. [Google Scholar]
- 14.Scriver C.R., Beaudet A.L., Sly W.S., Valle D., editors. The Metabolic Basis of Inherited disease. 7th ed. New York: Mc Graw — Hill; 2001. pp. 425–452. [Google Scholar]
- 15.Verma I.C., 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. doi: 10.1007/BF02723582. [DOI] [PubMed] [Google Scholar]