MANAGEMENT OF INBORN ERRORS OF METABOLISM: CURRENT STRATEGIES AND FUTURE DIRECTIONS

Okezie O. A.*, Onyeka O., Iwuamadi O. C., Obasi M., Oparaocha D. G., Uzor S., Nnodim J. K.

ABSTRACT

Inborn errors of metabolism (IEMs) are a diverse collection of single-geneabnormalities that interfere with metabolic pathways and can lead to multisystemdisease throughout an individual's life. Management strategies have transitionedfrom primarily supportive care and dietary modification to disease-modifyinginterventions, encompassing enzyme replacement therapy (ERT), substratereduction, pharmacological chaperones, organ and haematopoietic transplantation,cystostatic/cofactor therapies, and rapidly advancing genetic therapies, includinggene addition, haematopoietic stem cell gene therapy, and genome editing. Theextension of newborn screening, the development of better diagnostic tools (suchtandem mass spectrometry and next-generation sequencing), and a betterunderstanding of how diseases progress have all made it possible to start treatmentearlier and give patients more personalised care. There are still problems, such asdifferent levels of effectiveness in different organ systems (particularly the CNS),high treatment costs, restricted access around the world, and ethical and regulatorychallenges for new treatments. Future directions encompass targeted genecorrection, enhanced safety and efficacy of gene delivery technologies, optimisedintervention timing (pre-/neonatal), improved blood-brain barrier (BBB) delivery,and worldwide implementation strategies to assure equity.

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