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

D. L. Murphy, K. Sims, G. Eisenhofer, B. D. Greenberg, T. George, F. Berlin, A. Zametkin, M. Ernst, X. O. Breakefield

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)29-38
Number of pages10
JournalJournal of Neural Transmission, Supplement
Issue number52
StatePublished - 1998
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health
  • Biological Psychiatry


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