Review Article
A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries
Submitted: 30 April 2022 | Published: 30 May 2023
About the author(s)
John I. Anetor, Department of Chemical Pathology, Faculty of Basic Medical Sciences, University of Ibadan, Ibadan, NigeriaBose E. Orimadegun, Department of Chemical Pathology, Faculty of Basic Medical Sciences, University of Ibadan, Ibadan, Nigeria
Gloria O. Anetor, Department of Public Health Science, Faculty of Health Sciences, National Open University of Nigeria, Abuja, Nigeria
Abstract
Inborn errors of metabolism (IEM) are a group of genetically derived diseases that are individually rare but collectively common and can be very severe. While high-income countries usually employ modern scientific technologies like tandem mass spectrometry for IEM investigation, these disorders are, in contrast, only rarely screened for in developing countries due to misconceptions that the required facilities are beyond the reach of these countries. This paper attempts to educate scientists and clinicians in developing countries on low-technology IEM screening methods that only require moderate facilities. Although a definitive diagnosis of IEM may require specialised laboratory investigations and attendant interpretation, in most cases, the basic facilities available in the average clinical chemistry laboratory in developing countries can allow the early detection of IEM. This early detection would facilitate critical early decision making, thus leading to better management, optimised treatment, and reduced morbidity and or mortality of IEM in these resource-limited countries. With this approach, a few referral centres for confirmatory investigation, comparable to those existing in developed countries, could be established. This can be integrated into creative health education for healthcare professionals and families who have individuals with IEM.
What this study adds: IEMs are important enough that every country, developed or developing, should have screening plans and basic laboratory facilities that are adequate for initial IEM diagnosis. No country should therefore give up on testing for IEMs on the excuse of a paucity of advanced facilities.
Keywords
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Crossref Citations
1. Epidemiological burden of inborn errors of metabolism in low- and middle-income countries: a systematic review protocol
Kavita Kachroo, Annie NithiyaVathani Johnson, S.A.K. Moinudeen, Jitendra Sharma, Cheryl Holly
JBI Evidence Synthesis year: 2024
doi: 10.11124/JBIES-23-00540