Dopamine‐β‐hydroxylase deficiency in humans
- 31 January 1990
- journal article
- research article
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 40 (2), 370
- https://doi.org/10.1212/wnl.40.2.370
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.This publication has 5 references indexed in Scilit:
- Plasma dihydroxyphenylglycol and the intraneuronal disposition of norepinephrine in humans.JCI Insight, 1988
- ENDOGENOUS RESTORATION OF NORADRENALINE BY PRECURSOR THERAPY IN DOPAMINE-BETA-HYDROXYLASE DEFICIENCYThe Lancet, 1987
- POSTJUNCTIONAL VASCULAR SMOOTH-MUSCLE ALPHA-2 ADRENOCEPTORS IN HUMAN AUTONOMIC FAILURE1987
- Simultaneous liquid-chromatographic determination of 3,4-dihydroxyphenylglycol, catecholamines, and 3,4-dihydroxyphenylalanine in plasma, and their responses to inhibition of monoamine oxidase.Clinical Chemistry, 1986
- Clonidine raises blood pressure in severe idiopathic orthostatic hypotensionAmerican Journal Of Medicine, 1983