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Are MAO-A deficiency states in the general population and in putative high-risk populations highly uncommon?

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Part of the book series: Journal of Neural Transmission. Supplement ((NEURAL SUPPL,volume 52))

Summary

Lack of monoamine oxidase A (MAO-A) due to either Xp chromosomal deletions or alterations in the coding sequence of the gene for this enzyme are associated with marked changes in monoamine metabolism and appear to be associated with variable cognitive deficits and behavioral changes in humans and in transgenic mice. In mice, some of the most marked behavioral changes are ameliorated by pharmacologically-induced reductions in serotonin synthesis during early development, raising the question of possible therapeutic interventions in humans with MAO deficiency states. At the present time, only one multi-generational family and a few other individuals with marked MAO-A deficiency states have been identified and studied in detail. Although MAO deficiency states associated with Xp chromosomal deletions were identified by distinct symptoms (including blindness in infancy) produced by the contiguous Norrie disease gene, the primarily behavioral phenotype of individuals with the MAO mutation is less obvious. This paper reports a sequential research design and preliminary results from screening several hundred volunteers in the general population and from putative high-risk groups for possible MAO deficiency states. These preliminary results suggest that marked MAO deficiency states are very rare.

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© 1998 Springer-Verlag Wien

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Murphy, D.L. et al. (1998). Are MAO-A deficiency states in the general population and in putative high-risk populations highly uncommon?. In: Finberg, J.P.M., Youdim, M.B.H., Riederer, P., Tipton, K.F. (eds) MAO — The Mother of all Amine Oxidases. Journal of Neural Transmission. Supplement, vol 52. Springer, Vienna. https://doi.org/10.1007/978-3-7091-6499-0_4

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  • DOI: https://doi.org/10.1007/978-3-7091-6499-0_4

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-211-83037-6

  • Online ISBN: 978-3-7091-6499-0

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