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A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries

African journal of laboratory medicine, 2023, Vol.12 (1), p.1-8 [Peer Reviewed Journal]

2023. This work is published under https://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2023. The Authors 2023 ;This work is licensed under a Creative Commons Attribution 4.0 International License. ;ISSN: 2225-2002 ;ISSN: 2225-2010 ;EISSN: 2225-2010 ;DOI: 10.4102/ajlm.v12i1.1946

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  • Title:
    A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries
  • Author: Anetor, John I. ; Orimadegun, Bose E. ; Anetor, Gloria O.
  • Subjects: Amino acids ; basic laboratory investigations ; Birth defects ; Chromatography ; Developing countries ; Enzymes ; Evolution & development ; Fatty acids ; health education ; Health facilities ; inborn errors of metabolism ; Industrialized nations ; LDCs ; Mass spectrometry ; Medical laboratories ; Medical Laboratory Technology ; Metabolic disorders ; Metabolites ; optimisation of treatment ; Phenylketonuria ; Review ; Scientific imaging ; Urine
  • Is Part Of: African journal of laboratory medicine, 2023, Vol.12 (1), p.1-8
  • Description: 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.
  • Publisher: Cape Town: AOSIS (Pty) Ltd
  • Language: English;Portuguese
  • Identifier: ISSN: 2225-2002
    ISSN: 2225-2010
    EISSN: 2225-2010
    DOI: 10.4102/ajlm.v12i1.1946
  • Source: Freely Accessible Journals
    SciELO
    AOSIS OpenJournals
    PubMed Central
    ROAD: Directory of Open Access Scholarly Resources
    ProQuest Central
    DOAJ Directory of Open Access Journals
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