Comprehensive Iranian Guidelines for the Diagnosis and Management of Mitochondrial Disorders: An Evidence- and Consensus-Based Approach Publisher Pubmed



Dalili S ; Rostampour N ; Mousavi ST ; Joni SS ; Mahdieh N ; Rad AH ; Hakemzadeh ST ; Nikpour S ; Talea A ; Moravvej H
Source: Orphanet Journal of Rare Diseases Published:2025

Abstract

Mitochondrial disorders are a heterogeneous group of inherited metabolic diseases resulting from dysfunctions in oxidative phosphorylation. These conditions predominantly affect high-energy-demand organs such as the brain, heart, liver, and muscles, leading to diverse clinical manifestations and diagnostic challenges. This article presents the first comprehensive Iranian guideline for the diagnosis and management of mitochondrial diseases, developed through an evidence-based and consensus-driven methodology. We conducted a structured literature review across major biomedical databases from 2000 to 2023 and engaged a multidisciplinary panel of Iranian experts to establish context-specific recommendations. The guideline covers clinical presentations, laboratory biomarkers, neuroimaging features, genetic diagnostics, and treatment approaches including “cocktail therapy” and acute management protocols. It also integrates a mitochondrial disease scoring system to standardize diagnosis and provides detailed insights into safe anesthesia practices for affected individuals. Special attention is given to practical implementation in resource-limited settings. These guidelines aim to enhance diagnostic accuracy, optimize management strategies, and improve the quality of life for patients with mitochondrial disorders across Iran and similar healthcare systems. © The Author(s) 2025.