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Urgent Call to Tackle Metabolic Disorders in Pakistan

10/1/2025

25 4 Full Breakdown

Summary

Story summary

Mansoor and Khan highlight an urgent need to address inborn errors of metabolism (IEM) in low- and middle-income countries (LMICs), focusing on Pakistan.
Diagnostic progress is hampered by limited healthcare infrastructure and a lack of newborn screening.
They urge cost-effective diagnostics, investment in specialized metabolic training, and national registries with epidemiological studies to define prevalence and guide policy.

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Story summary

Mansoor and Khan highlight an urgent need to address inborn errors of metabolism (IEM) in low- and middle-income countries (LMICs), focusing on Pakistan.
Diagnostic progress is hampered by limited healthcare infrastructure and a lack of newborn screening.
They urge cost-effective diagnostics, investment in specialized metabolic training, and national registries with epidemiological studies to define prevalence and guide policy.