Deficit in dopamine beta-hydroxylase
The deficit in dopamine beta-hydroxylase is a very rare Genetic disease in connection with a faulty operation of the autonomous Nervous system noradrenergic with an autonomous nervous system cholinergic normally functioning. This disease appearing mainly by a orthostatic Hypotension or an intolerance with the effort. The other most visible demonstrations are a permanent nasal congestion and a Ptosis of the higher Paupière. Although the disease is present as of the birth, the diagnosis is generally late. The life expectancy is unknown.
The diagnosis rests on the private clinic, the observation of a undetectable blood rate of Noradrénaline and Adrénaline. The plasmatic rate of Dopamine is on the other hand increased by five to ten times the normal concentration what is almost pathognomonic of this disease.
Sources
- David Robertson, Emily Mr. Garland, Dopamine Deficiency Beta-Hydroxylase In GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005
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