Article
De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: a genomics approach to personalized medicine.
European journal of medical genetics - 1 May 2012
O'Leary Ryan E, Shih Jean C, Hyland Keith, Kramer Nancy, Asher Y Jane Tavyev, Graham John M
Abstract excerpt
Monoamine oxidase A and B (MAOA and MAOB) play key roles in deaminating neurotransmitters and various other biogenic amines. Patients deficient in one or both enzymes have distinct metabolic and neurologic profiles. MAOB deficient patients exhibit normal clinical characteristics and behavior, while MAOA deficient patients have borderline intellectual deficiency and impaired impulse control. Patients who lack both...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.