Metabolic laboratory (Officer In-charge Dr. Rita Christopher)
The focus of the Metabolic Laboratory is to provide diagnostic services for the identification of neurometabolic disorders and to carry out translational research in neurometabolic and cerebrovascular disorders. Since 2007, this laboratory has been conducting tandem mass spectrometry-based screening for inborn errors of metabolism. In a 3-mm dried blood spot collected on filter paper, 10 amino acids, free carnitine and 30 acylcarnitines are measured using a triple quadrupole liquid chromatography-mass spectrometer, and based on the characteristic profiles, inborn errors of amino acid metabolism, fatty acid oxidation defects and organic acidemias are identified. This facility, which is the first of its kind in a government set-up in the country, attracts samples from all over India as well as from other neighbouring countries. Since 2008, the lab has been participating and obtaining 100% satisfactory results for amino acid and acylcarnitine testing in the Newborn Screening Quality Assurance Program, conducted by the Center for Disease Control and Prevention (CDC), Atlanta, USA.
For the first time in India in 2011, through a funding from DBT, Govt of India, we have established a high-throughput, mass spectrometry-based method to simultaneously measure 5 lysosomal enzymes in a dried blood spot for the diagnosis of Gaucher, Pompe, Niemann-Pick type I and II, Krabbe and Pompe, diseases. Using this method we have tested >15.000 patient samples. Recently, again for the first time in India, we have established a low-cost, robust and sensitive mass spectrometry-based method for measuring a panel of very long-chain lysophosphatidylcholines (C20:0, C22:0, C24:0 and C26:0 LPCs) in dried blood spots to screen for X-linked adrenoleukodystrophy and other peroxisomal disorders. Using this method we have tested >1500 patients and identified cases of X-linked adrenoleukodystrophy.This research is funded by grants from DBT. We have also standardised mass spectrometry-based methods for measuring vitamin D and a panel of steroids in the blood. Using our in-house methods we have measured vitamin D and steroids in the serum of patients. Studies are also being conducted to identify differentially expressed microRNAs in the plasma and ruptured aneurysm tissue of patients with aneurysmal subarachnoid haemorrhage to determine their utility as diagnostic biomarkers and to elucidate their possible role in the formation and rupture of intracranial aneurysms. The role of estradiol and estrogen receptors in the patho-mechanism of cerebral aneurysm rupture is also being explored. Several collaborative projects with the faculty of the Institute and of Jayadeva Institute of Cardiovascular Sciences and Research, are also being conducted
Students working in the metabolic lab.