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

Area of Science:

• Biochemistry
• Genetics
• Public Health

Background:

• Organic acid disorders are rare inherited metabolic conditions impacting crucial metabolic pathways.
• Delayed diagnosis leads to severe complications including cardiac issues, respiratory problems, neurodevelopmental disorders, intellectual disability, and premature death.
• High consanguinity rates in South Asia contribute to a significant burden of these disorders in the region.

Purpose of the Study:

• To highlight the urgent need for implementing effective newborn screening programs for organic acid disorders in developing countries.
• To address the gap in screening facilities and treatment availability in resource-limited settings.
• To emphasize the role of screening in reducing morbidity and mortality associated with these conditions.

Main Methods:

• This is a narrative review.
• The review synthesizes current knowledge on organic acid disorders, their impact, and the necessity of newborn screening.
• It examines the challenges and opportunities for implementing screening programs in developing countries, particularly in South Asia.

Main Results:

• Organic acid disorders require identification through urinary metabolite investigation and genetic testing via newborn screening.
• Lack of screening facilities in developing countries results in untreated cases and significant health burdens.
• Effective newborn screening programs are crucial for early intervention and management.

Conclusions:

• Implementing effective newborn screening programs for organic acid disorders is essential for reducing morbidity and mortality.
• Such programs are critical for improving the quality of life for affected children and their families.
• Establishing these programs promotes global health equity by addressing disparities in healthcare access.