Dopamine-beta-hydroxylase deficiency in humans.

Abstract

We report a 42-year-old man with dopamine-beta-hydroxylase deficiency, an autonomic disorder characterized by lifelong severe orthostatic hypotension, ptosis, nasal stuffiness, hyperextensible joints, and retrograde ejaculation. There is isolated deficiency of norepinephrine in both central and peripheral neurons, which contain and release dopamine instead. Dopamine-beta-hydroxylase deficiency should be suspected also in infants presenting with delayed eye opening, hypoglycemia, hypothermia, or hypotension. It can be diagnosed definitively by assay of plasma norepinephrine and dopamine.

• Authors: I Biaggioni, D S Goldstein, T Atkinson, D Robertson
• Journal: Neurology (Neurology) Vol. 40 Issue 2 Pg. 370-3 (Feb 1990) ISSN: 0028-3878 [Print] United States
• PMID: 2300263 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Dopamine beta-Hydroxylase
• Norepinephrine
• Epinephrine

Topics

• Adult
• Autonomic Nervous System Diseases (physiopathology)
• Blood Pressure
• Dopamine beta-Hydroxylase (blood, cerebrospinal fluid, deficiency)
• Epinephrine (blood)
• Humans
• Male
• Norepinephrine (blood)