Volume 2, Issue 3 (2017)
SJMR 2017, 2(3): 179-185 |
Back to browse issues page
1- Sarem Fertility & Infertility Research Center (SAFIR)” and “Sarem Cell Research Center (SCRC)”, Sarem Women’s Hospital, Tehran, Ira
2- “Sarem Fertility & Infertility Research Center (SAFIR)” and “Sarem Cell Research Center (SCRC)”, Sarem Women’s Hospital, Tehran, Iran
3- “Sarem Fertility & Infertility Research Center (SAFIR)” and “Sarem Cell Research Center (SCRC)”, Sarem Women’s Hospital, Tehran, Iran , Mr.asiabanha@gmail.com
2- “Sarem Fertility & Infertility Research Center (SAFIR)” and “Sarem Cell Research Center (SCRC)”, Sarem Women’s Hospital, Tehran, Iran
3- “Sarem Fertility & Infertility Research Center (SAFIR)” and “Sarem Cell Research Center (SCRC)”, Sarem Women’s Hospital, Tehran, Iran , Mr.asiabanha@gmail.com
Abstract: (13089 Views)
Introduction: Neonatal metabolic disorders are a group of genetic biochemical diseases that cause diseases in the metabolic pathway due to the lack of enzyme function and enzymatic activity. More than a thousand metabolic disorders have been identified, but these diseases have a low prevalence. These diseases should be diagnosed in the pre-emergence period. The clinical symptoms of these diseases are complex and different. Neonatal screening is conducted for the early and rapid diagnosis of a large number of congenital and metabolic genetic diseases with the aim of identifying and managing the affected baby to prevent complications, death, and disability associated with a hereditary metabolic disorder. In this study, the related articles were searched both in Persian and English, using PubMed, Elsevier, and Google scholar databases. Finally, 38 articles were downloaded, translated, and analyzed in depth, and the history of neonatal metabolic disorder, its clinical in children and adults, as well as recent advances in the field of early diagnosis of these diseases were examined.
Conclusion: Today, the use of tandem mass spectrometric methods for the analysis of metabolic disorders has increased our ability to diagnose metabolic mediators and to identify and diagnose a large number of metabolic disorders with one sample and a single analytical run. A tandem mass spectrometric method can detect more than 50 metabolic disorders in just 2 to 3 minutes with a droplet of blood clot on paper.
Article Type: Systematical Review |
Subject:
Reproduction
Received: 2016/04/15 | Accepted: 2016/10/12 | Published: 2017/11/16
Received: 2016/04/15 | Accepted: 2016/10/12 | Published: 2017/11/16
References
1. Sanderson S, Green A, Preece MA, Burton H. The incidence of inherited metabolic disorders in the west Midlands, UK. Arch Dis Child. 2006;91:896-9. [Link] [DOI:10.1136/adc.2005.091637] [PMID] [PMCID]
2. Waisbren SE, Read CY, Ampola M, Brewster TG, Demmer L. Greenstein R, et al. Newborn screening compared to clinical identification of biochemical genetic disorders. J Inherit Metab Dis. 2002;25(7):599-600. [Link] [DOI:10.1023/A:1022003726224]
3. Scaturro G. Sanfilippo C. Piccione M, Piro E, Giuffrè M, Corsello G. Newborn screening of inherited metabolic disorders by tandem mass spectrometry: Past, present and future. Pediatr Med Chir. 2013;35(3):105-9. [Link] [DOI:10.4081/pmc.2013.42] [PMID]
4. Hoffmann GF, Zschocke J, Nyhan WL, editors. Inherited metabolic diseases: A clinical approach. Berlin: Springer-Verlag. 2017. [Link] [DOI:10.1007/978-3-662-49410-3]
5. Rule JT. Screening of newborn infants for metabolic disease: Committee on fetus and newborn. Pediatrics. 1965;35:499-501. [Link] [PMID]
6. Gray RG, Preece M, Green S, Whitehouse W, Winer J, Green A. Inborn errors of metabolism as a cause of neurological disease in adults: An approach to investigation. J Neurol Neurosurg Psychiatry. 2000;69(1):5-12. [Link] [DOI:10.1136/jnnp.69.1.5] [PMCID]
7. Eyskens F. Rare inborn errors of metabolism in adults: The lysosomal storage disorders. Acta Clin Belg. 2009;64(6):534-9. [Link] [DOI:10.1179/acb.2009.091] [PMID]
8. Pears JS, Jung RT, Hopwood D, Waddell ID, Burchell A. Glycogen storage disease diagnosed in adults. Quart J Med. 1992;82(299):207-22. [Link] [PMID]
9. Pearl PL, Capp PK, Novotny EJ, Gibson KM. Inherited disorders of neurotransmitters in children and adults. Clin Biochem. 2005;38(12):1051-8. [Link] [DOI:10.1016/j.clinbiochem.2005.09.012] [PMID]
10. Vantyghem MC, Dobbelaere D, Mention K, Wemeau JL, Saudubray JM, Douillard C. Endocrine manifestations related to inherited metabolic diseases in adults. Orphanet J Rare Dis. 2012;7:11. [Link] [DOI:10.1186/1750-1172-7-11] [PMID] [PMCID]
11. Sedel F, Lyon-Caen O, Saudubray JM. Therapy insight: Inborn errors of metabolism in adult neurology--A clinical approach focused on treatable diseases. Nat Clin Pract Neurol. 2007;3(5):279-90. [Link] [DOI:10.1038/ncpneuro0494] [PMID]
12. Kumar A, Riely CA. Inherited liver diseases in adults. West J Med. 1995;163(4):382-6. [Link] [PMID] [PMCID]
13. Garg U, Dasouki M. Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects. Clin Biochem. 2006;39(4):315-32. [Link] [DOI:10.1016/j.clinbiochem.2005.12.009] [PMID]
14. wilson JM, Jungner YG. Principles and practice of mass screening for disease. Bol Oficina Sanit Panamm. 1968;65(4):281-93. [Spanish] [Link] [PMID]
15. Wilson JMG, Junger G. Principles and practice of screening for dsease. Geneva: World Health Organization. 1968. [Link]
16. Dhondt JL. Expanded newborn screening: Social and ethical issues. J Inherit Metab Dis. 2010;33(Suppl 2):S211-7. [Link] [DOI:10.1007/s10545-010-9138-y] [PMID]
17. Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR. Newborn screening: Toward a uniform screening panel and system--executive summary. Pediatrics. 2006;117(5 Pt 2):S296-307. [Link] [DOI:10.1542/peds.2005-2633I] [PMID]
18. Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, et al. Efficacy and outcome of expanded newborn screening for metabolic diseases-Report of 10 years from South-West Germany. Orphanet J Rare Dis. 2011;6:44. [Link] [DOI:10.1186/1750-1172-6-44] [PMID] [PMCID]
19. Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carpenter K, et al. Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years. Pediatrics. 2009;124(2):e241-8. [Link] [DOI:10.1542/peds.2008-0586] [PMID]
20. Orzalesi M, Danhaive O. Ethical problems with neonatal screening. Ann Ist Super Sanita. 2009;45(3):325-30. [Link] [PMID]
21. Dietzen DJ, Rinaldo P, Whitley RJ, Rhead WJ, Hannon WH, Garg UC, et al. National academy of clinical biochemistry laboratory medicine practice guidelines: Follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary. Clin Chem. 2009;55(9):1615-26. [Link] [DOI:10.1373/clinchem.2009.131300] [PMID]
22. Plass AM, Van El CG, Pieters T, Cornel MC. Neonatal screening for treatable and untreatable disorders: Prospective parents' opinions. Pediatrics. 2010;125(1):e99-106. [Link] [DOI:10.1542/peds.2009-0269] [PMID]
23. Saadallah AA, Rashed MS. Newborn screening: Experiences in the middle east and North Africa. J Inherit Metab Dis. 2007;30(4):482-9. [Link] [DOI:10.1007/s10545-007-0660-5] [PMID]
24. Krotoski D, Namaste S, Raouf RK, El Nekhely I, Hindi-Alexander M, Engelson G, et al. Conference report: Second conference of the Middle East and North Africa newborn screening initiative: Partnerships for sustainable newborn screening infrastructure and research opportunities. Genet Med. 2009;11(9):663-8. [Link] [DOI:10.1097/GIM.0b013e3181ab2277] [PMID]
25. Lund AM, Hougaard DM, Simonsen H, Andresen BS, Christensen M, Duno M, et al. Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--Experienceand development of a routine program for expanded newborns creening. Mol Genet Metab. 2012;107:281-93. [Link] [DOI:10.1016/j.ymgme.2012.06.006] [PMID]
26. Lindner M, Abdoh G, Fang-Hoffmann J, Shabeck N, Al-Sayrafi M, Al-Janahi M, et al. Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: Developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg. J Inherit Metab Dis. 2007;30(4):522-9. [Link] [DOI:10.1007/s10545-007-0553-7] [PMID]
27. Gan-Schreier H, Kebbewar M, Fang-Hoffmann J, Wilrich J, AbdohG, Ben-Omran T, et al. Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. J Pediatr. 2010;156(3):427-32. [Link] [DOI:10.1016/j.jpeds.2009.09.054] [PMID]
28. Jones PM, Bennett MJ. The changing face of newborn screening: Diagnosis of inborn errors of metabolism by tandem mass spectrometry. Clin Chim Acta. 2002;324(1-2):121-8. [Link] [DOI:10.1016/S0009-8981(02)00238-3]
29. Vilarinho L, Rocha H, Sousa C, Marcao A, Fonseca H, Bogas M, et al. Four years of expanded newborn screening in Portugal with tandem mass spectrometry. J Inherit Metab Dis. 2010;33(3 Suppl):S133-8. [Link] [DOI:10.1007/s10545-010-9048-z] [PMID]
30. Armstrong MD, Low NL, Bosma JF. Studies on phenylketonuria. 9. Further observations on the effect of phenylalanine restricted diet on patients with phenylketonuria. Am J Clin Nutr. 1957;5:543-54. [Link] [DOI:10.1093/ajcn/5.5.543] [PMID]
31. Padilla CD, Krotoski D, Therrell BL Jr. Newborn screening progress in developing countries--overcoming internal barriers. Semin Perinatol. 2010;34(2):145-55. [Link] [DOI:10.1053/j.semperi.2009.12.007] [PMID]
32. Hashemipour M, Hovsepian S, Kelishadi R, Iranpour R, Hadian R, Haghighi S, et al. Permanent and transient congenital hypothyroidism in Isfahan-Iran. J Med Screen. 2009;16(1):11-6. [Link] [DOI:10.1258/jms.2009.008090] [PMID]
33. Habib A, Fallahzadeh MH, Kazeroni HR, Ganjkarim AH. Incidence of Phenylketonuria in Southern Iran. Iran J Med Sci. 2010;35(2):137-9. [Link]
34. Farhud DD, Kabiri M. Incidence of phenylketonuria (PKU) in Iran. Indian J Pediatr. 1982;49(5):685-8. [Link] [DOI:10.1007/BF02752654]
| Rights and permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |