Biochemical Basis and Clinical Application of Newborn Screening for Inborn Errors of Metabolism in Nigeria: A Professional Framework

Inborn errors of metabolism represent a biochemically diverse group of genetic disorders that are treatable when identified early through systematic newborn screening but that cause irreversible neurological damage or death if undetected in the neonatal period. In Nigeria, structured newborn screening programmes for metabolic disorders are virtually absent, and a professional framework for their development is urgently needed. This study develops a professionally grounded framework for biochemical newborn screening for inborn errors of metabolism in Nigeria, drawing on a situational analysis of existing newborn care biochemistry capacity across five referral hospitals in the South East, South West, and North Central zones. The situational analysis combines structured facility assessments, interviews with thirty neonatologists and paediatric biochemists, and systematic review of Nigerian published epidemiological data on metabolic disorder prevalence, including sickle cell disease, glucose-6-phosphate dehydrogenase deficiency, congenital hypothyroidism, phenylketonuria, and medium-chain acyl-CoA dehydrogenase deficiency. The review identifies that congenital hypothyroidism, sickle cell disease, and G6PD deficiency have the highest documented burden and the most feasible blood spot biochemical screening methods for the Nigerian context. A tiered screening programme framework is proposed specifying minimum screen, expanded screen, and confirmatory testing levels, with tandem mass spectrometry as the recommended platform for a second-tier expanded screen. Financial modelling suggests cost-effectiveness comparable to other health system investments at realistic Nigerian disease prevalence estimates. Keywords: newborn screening, inborn errors of metabolism, biochemical screening, Nigeria, congenital hypothyroidism.