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


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.


Attention Deficit Hyperactivity Disorder Monoamine Oxidase Attention Deficit Hyperactivity Disorder Adult Monoamine Metabolite MAOA Gene 


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Copyright information

© Springer-Verlag Wien 1998

Authors and Affiliations

  • D. L. Murphy
    • 1
    • 7
  • K. Sims
    • 2
  • G. Eisenhofer
    • 3
  • B. D. Greenberg
    • 1
  • T. George
    • 4
  • F. Berlin
    • 5
  • A. Zametkin
    • 6
  • M. Ernst
    • 6
  • X. O. Breakefield
    • 2
  1. 1.Laboratory of Clinical ScienceNational Institute of Mental Health, NIHBethesdaUSA
  2. 2.Molecular Neurogenetics LaboratoryMassachusetts General HospitalBostonUSA
  3. 3.Clinical Neuroscience BranchNational Institute of Neurological Disorders and Stroke, NIHBethesdaUSA
  4. 4.Laboratory of Clinical StudiesNational Institute on Alcohol Abuse and Alcoholism, NIHBethesdaUSA
  5. 5.Department of PsychiatryJohns Hopkins University School of MedicineBaltimoreUSA
  6. 6.Child Psychiatry BranchNational Institute of Mental Health, NIHBethesdaUSA
  7. 7.Laboratory of Clinical ScienceNIMH, NIH Clinical Center, 10-3D41BethesdaUSA

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