Clinical, biochemical, and histopathological diagnosis of Egyptian paediatric patients with suspected mitochondrial diseases: A hospital‑based study

Background. Mitochondrial respiratory chain (RC) disorders are a growing group of with large variety clinical presentations ranging from well-defined syndromes to nonspecific manifestations, such as failure thrive, exercise intolerance and seizures.Objective. To describe the clinical, biochemical, histochemical spectrum 38 Egyptian patients clinically suspected havingmitochondrial RC disorders.Methods. A total (female, n=18 (47.4%); male, n=20 (52.6%)) having mitochondrial diseases had been referred Inherited Metabolic Diseases Laboratory at Cairo University Children’s Hospital. investigations analyses included staining cytochrome c oxidase succinate dehydrogenase in muscle biopsies, well spectrophotometric assays complexes homogenates.Results. Twenty-three (60.5%) were diagnosed different enzyme deficiencies. Fifteen (65%) complex Ideficiency all them also lactic acidosis (mean (standard deviation)) plasma lactate concentration 4 (1.65) mmol/L). Twopatients (9%) marked IV deficiency both showed COX-negative ragged red fibers (RRFs) on staining.Combined I II scattered COX-stain RRFs was 2 (5.25%), whilea further (5.26%) combined (complex I, II+III, IV) Isolated in2 15 (39.5%) normal activities.Conclusion. Biochemical assay is considered cornerstone for diagnosis disorders.These common among paediatric patients.