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

• Published in: International journal of human genetics Vol. 1; no. 3; pp. 211 - 217
• Main Authors: Dave, Usha P., Udani, Vrajesh, Fernando, Josephine, Zhang, Chunhua, Matsumoto, Isamu
• Format: Journal Article
• Language: English
• Published: Routledge 01.09.2001
• Subjects: developmental delay; GC/MS; genetic counselling; IEM
• ISSN: 0972-3757; 2456-6330
• DOI: 10.1080/09723757.2001.11885761

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.