Dopamine Beta Hydroxylase Deficiency

Common Name(s)

Dopamine Beta Hydroxylase Deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dopamine Beta Hydroxylase Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dopamine Beta Hydroxylase Deficiency" returned 3 free, full-text research articles on human participants. First 3 results:

Neurocognitive function in dopamine-β-hydroxylase deficiency.
 

Author(s): Marieke Jepma, Jaap Deinum, Christopher L Asplund, Serge Arb Rombouts, Jouke T Tamsma, Nathanja Tjeerdema, Michiel M Spapé, Emily M Garland, David Robertson, Jacques Wm Lenders, Sander Nieuwenhuis

Journal: Neuropsychopharmacology. 2011 Jul;36(8):1608-19.

 

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, ...

Last Updated: 15 Jun 2011

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Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase.
 

Author(s): Chun-Hyung Kim, Amanda Leung, Yang Hoon Huh, Eungi Yang, Deog-Joong Kim, Pierre Leblanc, Hoon Ryu, Kyungjin Kim, Dong-Wook Kim, Emily M Garland, Satish R Raj, Italo Biaggioni, David Robertson, Kwang-Soo Kim

Journal: J. Biol. Chem.. 2011 Mar;286(11):9196-204.

 

Human norepinephrine (NE) deficiency (or dopamine β-hydroxylase (DBH) deficiency) is a rare congenital disorder of primary autonomic failure, in which neurotransmitters NE and epinephrine are undetectable. Although potential pathogenic mutations, such as a common splice donor site ...

Last Updated: 30 Mar 2011

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Reflex control of sympathetic nerve activity in dopamine beta-hydroxylase deficiency.
 

Author(s): R F Rea, I Biaggioni, R M Robertson, V Haile, D Robertson

Journal: Hypertension. 1990 Jan;15(1):107-12.

 

Patients with autonomic failure secondary to dopamine beta-hydroxylase deficiency lack the enzyme activity necessary for the conversion of dopamine to norepinephrine in sympathetic nerve terminals and the adrenal medulla. These patients have virtually undetectable norepinephrine and ...

Last Updated: 14 Feb 1990

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dopamine Beta Hydroxylase Deficiency" returned 2 free, full-text review articles on human participants. First 3 results:

Dopamine beta-hydroxylase deficiency.
 

Author(s): Jean-Michel Senard, Philippe Rouet

Journal:

 

Dopamine beta-hydroxylase (DbetaH) deficiency is a very rare form of primary autonomic failure characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma levels. The prevalence of DbetaH deficiency is unknown. Only a limited ...

Last Updated: 25 May 2006

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Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation.
 

Author(s): D Robertson, V Haile, S E Perry, R M Robertson, J A Phillips, I Biaggioni

Journal: Hypertension. 1991 Jul;18(1):1-8.

 

Dopamine beta-hydroxylase (DBH) deficiency is a genetic disorder in which affected patients cannot synthesize norepinephrine, epinephrine, and octopamine in either the central nervous system or the peripheral autonomic neurons. Dopamine acts as a false neurotransmitter in their noradrenergic ...

Last Updated: 3 Sep 1991

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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy
 

Status: Recruiting

Condition Summary: Symptomatic Neurogenic Orthostatic Hypotension; Parkinson's Disease; Multiple Systems Atrophy; Pure Autonomic Failure; Dopamine Beta Hydroxylase Deficiency

 

Last Updated: 13 Nov 2013

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Treatment of Orthostatic Hypotension
 

Status: Recruiting

Condition Summary: Autonomic Nervous System Diseases; Orthostatic Hypotension; Dopamine Beta-Hydroxylase Deficiency; Orthostatic Intolerance

 

Last Updated: 12 May 2014

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