Dopamine beta-hydroxylase deficiency
2006
Dopamine Beta-Hydroxylase Deficiency
publication
Author Information
Author(s): Senard Jean-Michel, Rouet Philippe
Primary Institution: Club d'Etude du Système Nerveux Autonome, Autonomic Unit of the Department of Clinical Pharmacology and INSERM U586, Faculté de Médecine, Toulouse, France
Conclusion
Dopamine beta-hydroxylase deficiency is a rare condition that leads to severe orthostatic hypotension and can be managed with the synthetic precursor of noradrenaline, DOPS.
Supporting Evidence
- DβH deficiency is characterized by a complete absence of noradrenaline and adrenaline in plasma.
- Symptoms often start during a complicated perinatal period with hypotension and hypoglycemia.
- Administration of DOPS can increase blood pressure and reverse orthostatic intolerance.
Takeaway
Dopamine beta-hydroxylase deficiency means your body can't make certain important hormones, which can make you feel dizzy when you stand up. A special medicine can help fix this.
Limitations
The exact prevalence of DβH deficiency is unknown due to the rarity of cases and potential lethality in embryos.
Digital Object Identifier (DOI)
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