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Page 8 of 11 Malherbe et al. Rare Dis Orphan Drugs J 2024;3:7 https://dx.doi.org/10.20517/rdodj.2023.49

To date, the meeting report (available from www.rarediseases.co.za) has been distributed to all sponsors and
participants and written support from NDOH has been obtained for the biochemical CH NBS
demonstration project. Funding is being sought to enable preliminary feasibility work on the provincial
demonstration projects in 2024.

CONCLUSION
It has been over 50 years since biochemical NBS was first considered in SA, with little progress achieved to
date, leaving the country far from a universal biochemical NBS programme. The country has a
responsibility to fully investigate expanding services for biochemical NBS, starting with CH. For the
estimated 250 babies born annually with CH in SA, amounting to 12,500 over the last 50 years - the lack of
early detection and treatment has resulted in them living with preventable, life-long intellectual disability
and other health issues. These patients require full-time care and special education, rendering them unable
to actively participate in society. This results in considerable personal and economic burdens.

South Africa is at the point where the value of biochemical NBS needs to be fully and urgently considered to
further reduce the burden of childhood mortality and morbidity. Globally, biochemical NBS is considered
to “increase in importance” as the IMR drops < 20 per 1,000 live births and needs to be “in place for it to
drop to < 10 per 1,000” . Without biochemical NBS, babies affected by CH, IEMs, and other rare diseases
[18]
and CDs will be left behind, dying prematurely or facing a lifetime of disability. It remains an imperative
that biochemical NBS is fully investigated in SA, both within the context of the SDGs and beyond.

DECLARATIONS
Acknowledgements
Thanks to Makua M, Women’s, Maternal and Reproductive Health, National Department of Health; van
der Westhuizen N, Medicine Management, Laboratory and Blood Services Support, Western Cape
Government Health, and Wellness; and Dlamini-Nqeketo S, World Health Organization South Africa, for
all contributions during the NBS for South Africa meeting in Cape Town in February 2023.

Author contributions
Conceptualized article and drafted the initial text: Malherbe HL
Provided data: Klopper B, Vorster BC
Feedback and substantial contribution to concept, draft and confirmation of final version: Malherbe HL,
Bonham J, Carrihill M, Chetty K, Conradie EH, Dercksen M, Goeiman H, Gomes MCM, Klopper B,
McKerrow N, Padilla C, Pillay TS, Roussot B, Satekge TM, Urban M, van der Watt G, Vreede H, Webster
D, Zampoli M, Vorster B

Availability of data and materials
Data included in the article were provided by the Centre for Human Metabolomics, North-West University,
South Africa.

Financial support and sponsorship
Thanks to the Joint Newborn Screening Task Force of the International Federation of Clinical Chemistry
and Laboratory Medicine (IFCC) and the International Society for Newborn Screening (ISNS), South
African Inherited Metabolic Disorders Group (SAIMDG) and industry partners PerkinElmer and
Labsystems Diagnostics Oy for funding support of the NBS for South Africa held in February 2023. This
funding support was solely for the meeting logistical expenses and did not impact the results of the study.