Wortmann, S.B., Koolen, D.A., Smeitink, J.A., den van Heuvel, L. and Rodenburg, R.J. (2015) Whole Exome Sequencing of Suspected Mitochondrial Patients in Clinical Practice. Journal of Inherited Metabolic Disease, 38, 437-443.
https://doi.org/10.1007/s10545-015-9823-y

has been cited by the following article:

• TITLE: Monoamine Oxidase Deficiency Symptom Management with Memantine: A Case Report

  AUTHORS: Mark C. Chandler, Nithya S. Burisetty

  KEYWORDS: Monoamine Oxidase, Brunner’s Syndrome, Memantine, Glutamate, Whole Exome Sequencing

  JOURNAL NAME: Case Reports in Clinical Medicine, Vol.14 No.7, July 17, 2025

  ABSTRACT: A patient with developmental delays, agitation, disordered sleep, cataplexy and anxiety was recently diagnosed with monoamine oxidase deficiency using whole exome sequencing. The overactive monoamine system explained the symptom complex and suggested a pharmacological approach to reduce glutamate activity while avoiding monoamine stimulation. Memantine has helped this young man better benefit from active treatment in a community setting. Further exploration of the genetics and management of monoamine oxidase abnormalities is encouraged.