Dopamine beta hydroxylase deficiency

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Dopamine beta hydroxylase deficiency
Classification and external resources
Dopamin - Dopamine.svg
Dopamine beta hydroxylase is the enzyme responsible for converting dopamine (pictured) to norepinephrine.
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[edit]

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. 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[edit]

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]

Circumstances to Avoid[edit]

Untreated individuals with DBH deficiency should avoid hot environments, strenuous exercise, standing still, and dehydration. [4][5]

References[edit]

  1. ^ "Dopamine receptor antagonists". Pharmacorama. 2005-06-19. Retrieved 2010-04-29. 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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[edit]