Ontology highlight
ABSTRACT:
SUBMITTER: Jepma M
PROVIDER: S-EPMC3138665 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
Jepma Marieke M Deinum Jaap J Asplund Christopher L CL Rombouts Serge Arb SA Tamsma Jouke T JT Tjeerdema Nathanja N Spapé Michiel M MM Garland Emily M EM Robertson David D Lenders Jacques Wm JW Nieuwenhuis Sander S
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 20110406 8
Dopamine-β-hydroxylase (DβH) deficiency is a rare genetic syndrome characterized by the complete absence of norepinephrine in the peripheral and the central nervous system. DβH-deficient patients suffer from several physical symptoms, which can be treated successfully with L-threo-3,4-dihydroxyphenylserine, a synthetic precursor of norepinephrine. Informal clinical observations suggest that DβH-deficient patients do not have obvious cognitive impairments, even when they are not medicated, which ...[more]