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 can also have an impact on digestion. "Dopamine has an emetic effect and inhibitis digestive motricity"[1]
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 generally have 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.[2]
Other medications that can bring relief include[3]:
- phenylpropanolamine- due to pressor response to vascular α-adrenoceptors.[4]
- metyrosine
- indomethacin
Dopamine Beta Hydroxylase Deficiency and Psychiatric Involvement
In this, there is a "five- to tenfold elevation of plasma dopamine" and almost non-existant or low levels of epinephrine. Therefore, it is almost incompresensable that there would be no neuropsychiatric involvement.However, the symptoms are not limited to that aspect of this disorder. According to one study by the NIH, 100% of individuals studied suffered severe orthostatic hypotension, 80% suffered anemia, 43% epileptic symptoms, 100% nasal stuffiness, 33% suffered hypoglycemia, 60% frequent urination and nighttime frequent urination, 50% muscle hypotonia, 75% postpranial hypotension, and 100% suffered from sleep problems. Cite error: A <ref> tag is missing the closing </ref> (see the help page).[5]
Alternative Medicine
- Perhaps Dopamine antagonists can bring releif from the neurological symptoms. However, it is not advised to take antipsychotics of the dopamine antagonist class as it worsens orthostatic hypotension.
- [Stephania] a Chinese herb has been found to posess dopamine antagonists but has some very bad side effects such as renal failure.[6]
References
- ^ http://www.pharmacorama.com/en/Sections/Catecholamines_7_4.php
- ^ 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.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dbh
- ^ http://www.ncbi.nlm.nih.gov/pubmed/17468175
External links
- www.Pubmed.com Researchers find that a chemical found in the Chinese herb Stephania is a D1 and D2 dopamine antagonist.
- NIH Gene Reviews
- Orphanet Journal of Rare Diseases
- National Dysautonomia Research Foundation
- PNAS Researchers claim that DBH deficiency reduces cellular immunity.