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 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. Dopamine Beta-Hydroxylase Deficiency belongs to the rare diseases. It is a recessive disorder.
Symptoms
A deficiency of norepinephrine and epinephrine 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. Response to treatment is variable and the long-term and functional outcome is unknown. To provide a basis for improving the understanding of the epidemiology, genotype/phenotype correlation and outcome of these diseases their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry was established by the noncommercial International Working Group on Neurotransmitter Related Disorders (iNTD).[2]
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:[3]
- phenylpropanolamine- due to pressor response to vascular α-adrenoceptors.[4]
- indomethacin
Vitamin C (ascorbic acid) is also a required cofactor for the Dopamine beta hydroxylase enzyme. Recent research[5] has shown that vitamin C rapidly catalyzes the conversion of dopamine to norepinephrine through stimulation of the dopamine beta hydroxylase enzyme.
Circumstances to Avoid
Untreated individuals with DBH deficiency should avoid hot environments, strenuous exercise, standing still, and dehydration. [6][7]
References
- ↑ "Dopamine receptor antagonists". Pharmacorama. 2005-06-19. Retrieved 2010-04-29.
- ↑ "Patient registry".
- ↑ 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.
- ↑ May, James M.; Qu, Zhi-chao; Nazarewicz, Rafal; Dikalov, Sergey (2013). "Ascorbic acid efficiently enhances neuronal synthesis of norepinephrine from dopamine". Brain Research Bulletin. 90: 35–42. doi:10.1016/j.brainresbull.2012.09.009. PMC 3527656
. PMID 23022576. - ↑ 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. Bibcode:2007BpJ....93.1431F. 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. Bibcode:1999PNAS...96.2274A. doi:10.1073/pnas.96.5.2274. PMC 26773. PMID 10051631.