Chemical Diagnosis of Congenital Metabolic Disorders by Gas Chromatography / Mass Spectrometry (GC/MS) in India

نویسندگان

  • Usha P. Dave
  • Vrajesh Udani
  • Josephine Fernando
  • Chunhua Zhang
  • Isamu Matsumoto
چکیده

The present study reports the chemical diagnosis of 254 high–risk children by GC/MS using MILS method, which detects biochemical marker compounds specific for congenital metabolic disorders. Air–dried “urine filter paper” allows simple bedside collection, transportation and a link with other hospitals. Simultaneous analysis of 101 metabolic disorders has the advantage of a wide range of detection to the attending doctor having limited health infrastructure in small towns and rural areas. The definite diagnosis was done in 44 samples (17.3%), reflecting the vast unexplored population of varied genetic etiology. This higher incidence in comparison with the earlier reports (4-5%) from India, based on conventional methods indicated the urgency of latest technology. In critically–ill neonates, the metabolic abnormality was 24.3%. This emphasizes the crucial role of GC/MS in preventing mortality and morbidity. The high–risk genetic factors were consanguinity (13%), family history of mental retardation (13%), and stillbirth and deaths (33%), indicating the racial and ethnic diversity, as well as cultural and traditional impact. The 3 interesting cases among many are discussed where successful management and therapy was done. Accuracy of GC/MS analysis made genetic counselling more effective in evaluating the risk of Inborn Errors of Metabolism (IEM) in future pregnancy.

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تاریخ انتشار 2003