Detection of Urinary Organic Acids in high risk Egyptian Children by ElectrosprayTandem Mass Spectrometry

摘要

Establishing an approach for early diagnosis and monitoring of disorders associated with accumulation organic acids in high risk Egyptian children using liquid chromatography tandem mass spectrometry (LC/MS/MS). Organic acids were detected in urine using LC/MS/MS and results were then confirmed by gas chromatography/ mass spectrometry (GC/MS). For confirmation of the type of organic acidurias (OA), acylcarnitines and/ or amino acids profiles using LC/MS/MS were done to all patients showing abnormal organic acids profiles patterns. LC/MS/MS detection of urinary organic acids revealed 31 out of 50 subjects (62%) with 11 different OAs. Organic acids profile must be done to neonates admitted to critical care units suffering unexplained neurological manifestations. The LC/MS/MS is a fast and efficient technique for the detection of many organic acids in urine and can facilitate the future screening for OA among high risk Egyptian families.