Role of Medical Biology in the Diagnosis of Inborn Errors of Metabolism

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Published Jul 12, 2026
https://doi.org/10.62438/tunismed.v104i07.6346
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Vol. 104 No. 07 (2026): Tunis Med Jul 2026

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Asmaa Morjan
Biochemistry Laboratory, Ibn Rochd University Hospital, Casablanca. Laboratory of Clinical Immunology, Infection and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco
Oumaima Fouinna
Biochemistry Laboratory, Ibn Rochd University Hospital, Casablanca. Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco
Imane Chahid
Paediatrics Department 3, A. Harouchi Children’s University Hospital, Ibn Rochd University Hospital Complex, Laboratory of Clinical Immunology, Infection and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco.
Abdelhak Abkari
Paediatrics Department 3, A. Harouchi Children’s University Hospital, Ibn Rochd University Hospital Complex, Laboratory of Clinical Immunology, Infection and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco.
Kamal Nabiha
Biochemistry Laboratory, Ibn Rochd University Hospital, Casablanca. Laboratory of Clinical Immunology, Infection and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco

Abstract

Inherited metabolic diseases (IMDs) comprise a diverse group of rare genetic disorders that disrupt critical metabolic pathways, primarily due to enzymatic deficiencies or defects in transport proteins. These impairments result in toxic metabolite accumulation, energy production deficits, and multisystemic clinical manifestations. Prompt and accurate diagnosis is essential for effective management and improved patient outcomes. This article comprehensively reviews the pivotal role of Clinicalbiochemistry, with a focus on biochemical analyses, in the diagnosis of IMDs. We provide an overview of both routine and specialized biochemical assays including amino acid and organic acid profiling, enzymatic activity measurements, and genetic testing that facilitate early detection and definitive diagnosis. The integration of neonatal screening programs alongside advanced
molecular diagnostic techniques has markedly enhanced diagnostic precision, though challenges remain regarding test interpretation and accessibility. In conclusion, biochemical testing remains indispensable for the timely identification and management of IMDs, enabling targeted
therapeutic interventions that significantly improve prognosis.

Keywords:

Inherited metabolic diseases, biochemical diagnosis, enzymatic assays, neonatal screening, Inborn Errors of Metabolism (IEMs)

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