Dopamine-β-hydroxylase deficiency in humans

Biaggioni, Italo MD
Goldstein, David S. MD, PhD
Atkinson, Thomas MD
Robertson, David MD

Autonomic Dysfunction Center and Departments of Medicine and Pharmacology (Drs. Biaggioni and Robertson), Vanderbilt University, Nashville, TN; the Hypertension-Endocrine Branch (Dr. Goldstein), National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD; and Dr. Atkinson, Siloam Springs, AR.

Address correspondence and reprint requests to Dr. Italo Biaggioni, Autonomic Dysfunction Center, Vanderbilt University, Nashville, TN 37232

Supported by RR0095, HL34192, and a grant from the Dysautonomia Foundation. Dr. Biaggioni was a Clinical Associate Physician of the Elliot V. Newman Clinical Research Center. Dr. Robertson is a Burroughs Wellcome Scholar in Clinical Pharmacology.

Received January 9, 1989. Accepted for publication in final form July 14, 1989.

Neurology 40(2):p 370-373, February 1990.

Article abstract

We report a 42-year-old man with dopamine-β-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-β-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.