Dopamine beta hydroxylase deficiency
Symptoms
A deficiency of norepinephrine and epinephrine that causes orthostatic hypotension, nasal stuffiness, and droopy eyelids (ptosis) among other symptoms. Some people refer to this as norepinephrine deficiency. It's caused by largely increased amounts of serum dopamine and release of dopamine in place of norepinephrine. It is difficult for people with this to stand still for longer than one minute. Another symptom is hypoglycemia which is thought to be caused by adrenomedullary failure and the T-wave abnormalities from failure of noradrenergic control. Also, prolactin is frequently suppressed by excessive dopamine.
This is a form of dysautonomia but differentiated from familial dysautonomia by lack of familial dysautonomic symptoms such as loss of sense of pain and smell.
Medications
Most people can be treated using L-Threo-DOPS. Some other OTC medications can be beneficial as well. Researchers of disorders such as depression ,schizophrenia, and migraines are very interested in studying this disorder as the persons have generally triple fold amounts of dopamine in their system and yet are generally normal. Some people also claim that MAOI's can improve depression symptoms in norepinephrine deficiency.[1]
Other medications that can bring relief include[2]:
- phenylpropanolamine- due to pressor response to vascular α-adrenoceptors.[3]
- metyrosine
- indomethacin
Circumstances to Avoid
Untreated individuals with DBH deficiency should avoid hot environments, strenuous exercise, standing still, and dehydration. [4][5]
Addional Information
NIH Gene Reviews[1]
Orphanet Journal of Rare Diseases[2]
National Dysautonomia Research Foundation <http://www.ndrf.org/dopamine.htm>
PNAS <http://www.pnas.org/content/96/5/2274.full> Researchers claim that DBH deficiency reduces cellular immunity.
- ^ http://www.personal.psu.edu/staff/e/x/exc147/cause.html
- ^ http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dbh#dbh.REF.robertson.1990.1
- ^ Robertson D, Hollister AS, Biaggioni I (1990) Dopamine-b-hydroxylase deficiency and cardiovascular control. In: Laragh JH, Brenner BM (eds) Hypertension Pathophysiology, Diagnosis and Management. Raven Press Ltd, New York, pp 749-59.
- ^ http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1459119
- ^ http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dbh