Dopamine beta hydroxylase deficiency
| Dopamine beta hydroxylase deficiency | |
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Dopamine beta hydroxylase is the enzyme responsible for converting dopamine (pictured) to norepinephrine.
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 223360 |
| DiseasesDB | 33227 |
| Patient UK | Dopamine beta hydroxylase deficiency |
Dopamine beta hydroxylase deficiency is a condition involving inadequate Dopamine beta hydroxylase. It is characterized by increased amounts of serum dopamine and the absence of nor-epinephrine and epinephrine. Dopamine is released in place of nor-epinephrine as a false neurotransmitter. This condition is sometimes referred to as norepinephrine deficiency.
Symptoms
A deficiency of norepinephrine and epinephrine that causes nasal stuffiness, droopy eyelids (ptosis), dizzy head (orthostatic hypotension), and difficulty standing still for longer than one minute among other similar symptoms. 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. Excess dopamine can also affect digestion, producing vomiting and inhibiting motor signaling to the GI tract.[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.
Other medications that can bring relief include:[2]
- phenylpropanolamine- due to pressor response to vascular α-adrenoceptors.[3]
- indomethacin[citation needed]
Circumstances to Avoid
Untreated individuals with DBH deficiency should avoid hot environments, strenuous exercise, standing still, and dehydration. [4][5]
References
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External links
- GeneReviews/NCBI/NIH/UW entry on Dopamine Beta-Hydroxylase Deficiency
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- National Dysautonomia Research Foundation
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