Abstract
The discovery of enzyme deficiencies in lysosomal storage disorders began with two discoveries made in 1963. One of these was made by a Belgian scientist, Henri-Gery Hers, who discovered that in Pompe’s disease there was a deficiency in α-glucosidase. The other was made by an international collaboration involving an American neurologist, James Austin, and an Indian biochemist, Bimal Bachhawat, where the enzyme arylsulfatase A was found deficient in metachromatic leukodystrophy. This article attempts to trace the events that led to this fruitful collaboration and how these two young investigators eventually discovered the defective enzyme in metachromatic leukodystrophy.
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Acknowledgements
We are indebted to Prof. AS Balasubramanian, retired professor, CMC Hospital, Vellore, and Prof. James H Austin, professor emeritus of neurology at the University of Colorado Health Sciences Center, for providing us crucial information that helped us be factually correct while writing this historical account. Both ASB and JHA were authors of the Journal of Neurochemistry paper that was discussed and were able to vividly recollect many of the events in relation to the discovery, even though they had to go back 60 years in time! We thank them also for correcting the draft of the manuscript at different stages of its preparation. SG was supported by a grant from CEFIPRA. AKB acknowledges funding from CEFIPRA and IISER Mohali.
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Corresponding editor: Sudha Bhattacharya
This article is part of the Topical Collection: The Rare Genetic Disease Research Landscape in India.
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Gupta, S., Bachhawat, A.K. Early discoveries on enzyme deficiencies in lysosomal storage diseases: The Indian contribution. J Biosci 48, 57 (2023). https://doi.org/10.1007/s12038-023-00394-8
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DOI: https://doi.org/10.1007/s12038-023-00394-8