Neonatal Screening for Aminoaciduria: Can TLC be used as an Affordable Method in Developing Countries?

In the view of high birth rate, a large burden of preventable mental retardation in the form of aminoaciduria occurs in developing country like India. While neonatal screening by tandem mass spectrometry (TMS) and HPLC (High Pressure Liquid Chromatography) is almost universal in developed countries but scarce in India due to high cost. Hence, this study was planned to asses thin layer chromatography (TLC), a simple, economic and easily available technique as a possible tool for mass neonatal screening. The study was conducted in departments of Biochemistry and Pediatrics, Christian Medical College and Hospital, Ludhiana. All the newborns born/ admitted at the institution over a period of 18 months were subjected to urine examination for aminoaciduria by thin layer chromatography (TLC). HPLC for aminoaciduria was done in both TLC positive and clinically suspicious cases. Aminoaciduria (homocystinuria) was detected in one case among 1530 neonates screened by TLC and confirmed by HPLC. In 58 clinically suspected neonates, both TLC and HPLC were negative for aminoaciduria. TLC can be an effective and cheaper alternative to TMS to begin mass screening for aminoacidurias. Besides reducing morbidity it can also be a stepping stone for future introduction of TMS based universal screening. The incidence and pattern of aminoacidurias in north India seems to be different from other countries as well as south India; homocystinuria appears to be the commonest.