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Diseases

Genetic and Rare Diseases Information Center (GARD)

Dopamine beta hydroxylase deficiency


Other Names for this Disease
  • Norepinephrine deficiency
  • Noradrenaline deficiency
  • Dopamine beta-hydroxylase deficiency, congenital
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Dopamine beta hydroxylase deficiency is a disease which affects the body’s ability to regulate blood pressure and body temperature. Symptoms typically begin in late childhood and include vomiting, dehydration, low blood pressure, especially upon standing (orthostatic hypotension), and low blood sugar levels (hypoglycemia). Low blood pressure can also cause dizziness, blurred vision, and difficulty exercising. Some people have experienced drooping eyelids (ptosis), muscle pain, and weakness. Dopamine beta hydroxylase deficiency is caused by mutation in the DBH gene and is inherited in an autosomal recessive manner. Diagnosis is based on blood tests showing high dopamine levels and low norepinephrine levels. Treatment with a synthetic form of norepinephrine can reduce hypotension.[1][2] 
Last updated: 7/19/2016

References

  1. Dopamine beta-hydroxylase deficiency. Genetics Home Reference; September, 2008; https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency.
  2. David Robertson, MD and Emily M Garland, PhD. Dopamine Beta-Hydroxylase Deficiency. GeneReviews; October 29, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1474/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Dopamine beta hydroxylase deficiency. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dopamine beta hydroxylase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Norepinephrine deficiency
  • Noradrenaline deficiency
  • Dopamine beta-hydroxylase deficiency, congenital
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.