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Dopamine-beta-hydroxylase deficiency in humans. 1990

I Biaggioni, and D S Goldstein, and T Atkinson, and D Robertson
Autonomic Dysfunction Center, Vanderbilt University, Nashville, TN 37232.

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.

UI MeSH Term Description Entries
D008297 Male Males
D009638 Norepinephrine Precursor of epinephrine that is secreted by the ADRENAL MEDULLA and is a widespread central and autonomic neurotransmitter. Norepinephrine is the principal transmitter of most postganglionic sympathetic fibers, and of the diffuse projection system in the brain that arises from the LOCUS CERULEUS. It is also found in plants and is used pharmacologically as a sympathomimetic. Levarterenol,Levonorepinephrine,Noradrenaline,Arterenol,Levonor,Levophed,Levophed Bitartrate,Noradrenaline Bitartrate,Noradrénaline tartrate renaudin,Norepinephrin d-Tartrate (1:1),Norepinephrine Bitartrate,Norepinephrine Hydrochloride,Norepinephrine Hydrochloride, (+)-Isomer,Norepinephrine Hydrochloride, (+,-)-Isomer,Norepinephrine d-Tartrate (1:1),Norepinephrine l-Tartrate (1:1),Norepinephrine l-Tartrate (1:1), (+,-)-Isomer,Norepinephrine l-Tartrate (1:1), Monohydrate,Norepinephrine l-Tartrate (1:1), Monohydrate, (+)-Isomer,Norepinephrine l-Tartrate (1:2),Norepinephrine l-Tartrate, (+)-Isomer,Norepinephrine, (+)-Isomer,Norepinephrine, (+,-)-Isomer
D001794 Blood Pressure PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS. Systolic Pressure,Diastolic Pressure,Pulse Pressure,Pressure, Blood,Pressure, Diastolic,Pressure, Pulse,Pressure, Systolic,Pressures, Systolic
D004299 Dopamine beta-Hydroxylase Dopamine beta-Monooxygenase,Dopamine beta Hydroxylase,Dopamine beta Monooxygenase,beta-Hydroxylase, Dopamine,beta-Monooxygenase, Dopamine
D004837 Epinephrine The active sympathomimetic hormone from the ADRENAL MEDULLA. It stimulates both the alpha- and beta- adrenergic systems, causes systemic VASOCONSTRICTION and gastrointestinal relaxation, stimulates the HEART, and dilates BRONCHI and cerebral vessels. It is used in ASTHMA and CARDIAC FAILURE and to delay absorption of local ANESTHETICS. Adrenaline,4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol,Adrenaline Acid Tartrate,Adrenaline Bitartrate,Adrenaline Hydrochloride,Epifrin,Epinephrine Acetate,Epinephrine Bitartrate,Epinephrine Hydrochloride,Epinephrine Hydrogen Tartrate,Epitrate,Lyophrin,Medihaler-Epi,Acetate, Epinephrine
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D001342 Autonomic Nervous System Diseases Diseases of the AUTONOMIC NERVOUS SYSTEM, including sympathetic, parasympathetic, and enteric nervous systems. Autonomic Disorders,Central Autonomic Nervous System Diseases,Disorders of the Autonomic Nervous System,Dysautonomia,Nervous System Diseases, Autonomic,Nervous System Diseases, Parasympathetic,Nervous System Diseases, Sympathetic,Non-Familial Dysautonomia,Parasympathetic Nervous System Diseases,Peripheral Autonomic Nervous System Diseases,Sympathetic Nervous System Diseases,ANS (Autonomic Nervous System) Diseases,ANS Diseases,Autonomic Central Nervous System Diseases,Autonomic Diseases,Autonomic Nervous System Disorders,Autonomic Peripheral Nervous System Diseases,Segmental Autonomic Dysfunction,ANS Disease,Autonomic Disease,Autonomic Disorder,Autonomic Dysfunction, Segmental,Autonomic Dysfunctions, Segmental,Disorder, Autonomic,Dysautonomia, Non-Familial,Dysautonomias,Non Familial Dysautonomia,Non-Familial Dysautonomias,Segmental Autonomic Dysfunctions

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