SEARCHNARRATIVE_REVIEWpediatrics, clinical nutrition

narrative_review·pediatrics, clinical nutrition, internal medicine, epidemiology, public health·PMC10244816

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

African Journal of Laboratory Medicine · 3 authors, 2 centres

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TL;DR

It concludes that average clinical chemistry labs can provide valuable information for early decision-making.

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The paper emphasizes the need for interdisciplinary collaboration among clinicians, laboratory scientists, and dietitians, and calls for support from international organizations to improve diagnostic capacity.

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narrative_review

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pediatrics

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100% · A

ORIGINAL PAPER

PMC10244816

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

African Journal of Laboratory Medicine

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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.

CITATION EXPORT

John I. Anetor, Bose E. Orimadegun, Gloria O. Anetor. A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries. African Journal of Laboratory Medicine. (2023). https://doi.org/10.4102/ajlm.v12i1.1946

AUTHORS

3 · 2 CENTRES

John I. Anetor, Bose E. Orimadegun, Gloria O. Anetor

1Department of Chemical Pathology, Faculty of Basic Medical Sciences, University of Ibadan, Ibadan, Nigeria
2Department of Public Health Science, Faculty of Health Sciences, National Open University of Nigeria, Abuja, Nigeria