Role of baseline biochemical work up in the diagnosis of possible respiratory chain disorder in clinically suspected children

Introduction and Aim: Respiratory chain disorder is a genetic defect in electron transport chain which involves ATP generation. There is no single screening or confirmatory test for its diagnosis, hence combination of clinical symptoms and biomarkers are utilized despite the advancement of techniques. The present study conducted to investigate the usefulness of baseline biochemical metabolic workup in clinically suspected children for diagnosis of possible respiratory chain disorder. Materials and Methods: Clinical and baseline metabolic workup results of 385 children with clinically suspected inborn errors of metabolism was collected from their medical records. These results were utilized to classify them as possible respiratory chain disorder. Results: Of the 385 children with clinically suspected to have inborn errors of metabolism, 99 were classified as possible respiratory chain disorder based on the applied criteria. Nearly 50 % of the cases had positive family history however; the majority of them visited the hospital only after the appearance of symptoms such as developmental delay, seizures, hypotonic, etc. Conclusion: Baseline metabolic work up may be used to identify possible respiratory chain in children with family history and or initial clinical symptoms to initiate further diagnosis and timely intervention. Educating parents and primary care physician in this regard may be useful.