Article
[From gene to disease; dopamine-beta-hydroxylase deficiency and orthostatic hypotension].
Nederlands tijdschrift voor geneeskunde - 4 Sept 2004
Deinum J, van den Meiracker A H, Boomsma F, van Ittersum F J, Wevers R A, Lenders J W M
Abstract excerpt
The DBH gene encodes dopamine-beta-hydroxylase (DbetaH), the enzyme that catalyses the formation of norepinephrine from dopamine. Inactivation of this enzyme due to a mutation of the DBH gene causes a selective (nor)-adrenergic failure of the sympathetic nervous system. This manifests as a severe orthostatic syndrome in which sweating and a normal parasympathetic function are preserved. Several mutations of the...
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