Closing the gap: an urgent need for newborn screening of organic acid disorders in developing countries

Authors

  • Soma Vankwani Dr. Panjwani Center for Molecular Medicine and Drug Research, International Center for Chemical and Biological Sciences (ICCBS), University of Karachi, Karachi, Pakistan
  • Muhammad Wasim Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan
  • Munazza Raza Mirza Dr. Panjwani Center for Molecular Medicine and Drug Research, International Center for Chemical and Biological Sciences (ICCBS), University of Karachi, Karachi, Pakistan
  • Fazli Rabbi Awan Human Molecular Genetics and Metabolic Disorders Group, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.

DOI:

https://doi.org/10.47391/JPMA.10223

Keywords:

Inborn errors of metabolism, Organic acidurias/acidemias, Newborn/neonatal screening

Abstract

Organic acid disorders are rare inherited metabolic disorders of key metabolic pathways. For the identification of specific organic acids, investigation of urinary metabolites and genetic testing are required through newborn screening programmes. Delayed diagnosis leads to complications, such as cardiac attacks, respiratory problems, neuro-developmental disorders, intellectual disability, and even premature death. The burden of such inherited disorders is quite high in developing countries of South Asia due to high rate of consanguinity in the region. Unfortunately, such disorders are left untreated due to the lack of screening facilities in such countries. The current narrative review was planned to highlight the urgent need for closing this gap and implementing effective newborn screening programmes for organic acid disorders in developing countries.

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Published

2024-05-24

How to Cite

Vankwani, S., Wasim, M., Mirza, M. R., & Awan, F. R. (2024). Closing the gap: an urgent need for newborn screening of organic acid disorders in developing countries. Journal of the Pakistan Medical Association, 74(6), 1136–1143. https://doi.org/10.47391/JPMA.10223

Issue

Section

Narrative Review