Dopamine beta hydroxylase deficiency
| Dopamine beta hydroxylase deficiency | |
|---|---|
 Dopamine beta hydroxylase is the enzyme responsible for converting dopamine (pictured) to norepinephrine. | |
| Classification and external resources | |
| OMIM | 223360 |
| DiseasesDB | 33227 |
Dopamine beta hydroxylase deficiency is a condition involving inadequate Dopamine beta hydroxylase. It is caused largely by increased amounts of serum dopamine and release of dopamine in place of norepinephrine and 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
Circumstances to Avoid
Untreated individuals with DBH deficiency should avoid hot environments, strenuous exercise, standing still, and dehydration. [4][5]
References
- ↑ "Dopamine receptor antagonists". Pharmacorama. 2005-06-19. Retrieved 2010-04-29.
- ↑ Roberta A Pagon, Thomas C Bird, Cynthia R Dolan, Karen Stephens, David Robertson, Emily M Garland. "Dopamine Beta-Hydroxylase Deficiency". GeneReviews - NCBI Bookshelf. Retrieved 2010-04-29.
- ↑ Robertson D, Hollister AS, Biaggioni I (1990). "Dopamine-b-hydroxylase deficiency and cardiovascular control". In Laragh JH, Brenner BM. Hypertension Pathophysiology, Diagnosis and Management. New York: Raven Press Ltd. pp. 749–59.
- ↑ Senard JM, Rouet P (2006). "Dopamine beta-hydroxylase deficiency". Orphanet Journal of Rare Diseases 1: 7. doi:10.1186/1750-1172-1-7. PMC 1459119. PMID 16722595.
- ↑ Roberta A Pagon, Thomas C Bird, Cynthia R Dolan, Karen Stephens, David Robertson, Emily M Garland. "Dopamine Beta-Hydroxylase Deficiency". GeneReviews - NCBI Bookshelf. Retrieved 2010-04-29.
External links
- GeneReviews/NCBI/NIH/UW entry on Dopamine Beta-Hydroxylase Deficiency
- Fu W, Shen J, Luo X et al. (September 2007). "Dopamine D1 receptor agonist and D2 receptor antagonist effects of the natural product (-)-stepholidine: molecular modeling and dynamics simulations". Biophysical Journal 93 (5): 1431–41. doi:10.1529/biophysj.106.088500. PMC 1948031. PMID 17468175.
- National Dysautonomia Research Foundation
- Alaniz RC, Thomas SA, Perez-Melgosa M et al. (March 1999). "Dopamine beta-hydroxylase deficiency impairs cellular immunity". Proceedings of the National Academy of Sciences of the United States of America 96 (5): 2274–8. doi:10.1073/pnas.96.5.2274. PMC 26773. PMID 10051631.
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