Biochemical assay of respiratory chain enzymes among Egyptian pediatric patients with mitochondrial diseases /
القياس الكيميائى لسلسلة انزيمات التنفس في الاطفال المصريين المصابين بامراض الميتوكوندريا
Doaa Mohamed Abdo Mostafa ; Supervised Fayza Abdelhamid Hassan ,Laila Abdelmotleb Sleim , Rudy Van Coster
- Cairo : Doaa Mohamed Abdo Mostafa , 2015
- 147 P. : charts ; 25cm
Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology
Background: Mitochondrial dysfunction is one of the most common causes of pediatric Encephalomyopathies. Mitochondrial respiratory chain enzymes deficiency is an important cause of mitochondrial dysfunction. Objectives: This study aimed at assessment of the prevalence of respiratory chain enzymes deficiency among 23 Egyptian children diagnosed as mitochondrial Encephalomyopathies. Also, to highlight the role of biochemical assay of those enzymes to reach the proper diagnosis in these disorders. Subjects and methods: Open muscle biopsy was conducted in 23 patients. Biochemical analysis of the activities of the respiratory chain enzymes was determined in the muscle biopsy homogenate along with the Citrate Synthase enzyme and total protein in the prepared muscle homogenate using standard spectrophotometric techniques