Congenital dopamine-beta-hydroxylase deficiency in humans

Annals of the New York Academy of Sciences
H J L M TimmersJ W M Lenders

Abstract

Dopamine-beta-hydroxylase (DbetaH) deficiency is a rare autosomal dominant disorder. Due to the absence of DbetaH, there is a blocked conversion of dopamine into norepinephrine. The biochemical hallmark of this syndrome consists of a complete absence of plasma norepinephrine and epinephrine levels in conjunction with an increased plasma dopamine level. Several mutations in the gene that encodes for DbetaH have been described. Up to now, worldwide, 12 patients have been reported. The most important clinical feature is a severe orthostatic hypotension. In addition, several other clinical features like blepharoptosis, hyperflexible joints, high palate, sluggish deep tendon reflexes, and a mild normocytic anemia have been described. The only effective treatment of DbetaH deficiency is L-threo-3,4-dihydroxyphenylserine (DOPS). DOPS is converted directly into norepinephrine. Treatment with DOPS results in a sustained relief of orthostatic symptoms.

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Citations

Jan 21, 2014·Progress in Neurobiology·Ivo F ScheiberRalf Dringen
Apr 8, 2011·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Marieke JepmaSander Nieuwenhuis
Mar 1, 2008·Clinical and Experimental Pharmacology & Physiology·Claude Julien
Jan 12, 2007·Cardiovascular Drug Reviews·David S Goldstein
Sep 24, 2015·Nature Reviews. Neurology·Joanne NgManju A Kurian
Jul 10, 2010·Neuroscience and Biobehavioral Reviews·Karen L Eskow JaunarajsChristopher Bishop
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Jul 24, 2007·Molecular Biology and Evolution·Yoonsoo HahnByungkook Lee
Apr 19, 2015·BMB Reports·Hye Ji OhYoonsoo Hahn

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