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 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. 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]

Circumstances to Avoid

Untreated individuals with DBH deficiency should avoid hot environments, strenuous exercise, standing still, and dehydration. [5][6]

References

  1. ↑ "Dopamine receptor antagonists". Pharmacorama. 2005-06-19. Retrieved 2010-04-29.
  2. ↑ "Patient registry".
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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

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