Dopamine Beta-Hydroxylase DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Dopamine Beta-Hydroxylase Deficiency
Dopamine beta-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. The signs and symptoms of dopamine beta-hydroxylase deficiency are caused by a lack of norepinephrine, one of the main chemical messengers (neurotransmitters) of the autonomic nervous system.
Variants (also called mutations) in the DBH gene cause dopamine beta-hydroxylase deficiency. The DBH gene provides instructions for producing the enzyme dopamine beta-hydroxylase. This enzyme converts dopamine to norepinephrine. Both dopamine and norepinephrine are neurotransmitters that transmit signals from nerve cells to other cells in the body.
Dopamine beta-hydroxylase deficiency is a very rare disorder. As of 2021, approximately 25 individuals with this condition have been described in the scientific literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Tessa Wassenberg practices practicing medicine in Brussels, Belgium. Ms. Wassenberg is rated as an Elite expert by MediFind in the treatment of Dopamine Beta-Hydroxylase Deficiency. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Dopamine Beta-Hydroxylase Deficiency, Dopa-Responsive Dystonia, Ring Chromosome 6, and Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency.
Leo Monnens practices practicing medicine in Nijmegen, Netherlands. Mr. Monnens is rated as an Elite expert by MediFind in the treatment of Dopamine Beta-Hydroxylase Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Dopamine Beta-Hydroxylase Deficiency, Ptosis, Orthostatic Hypotension, and Eyelid Drooping.
Central Georgia Heart Center
Carmine Oddis is a Cardiologist practicing medicine in Macon, Georgia. Dr. Oddis is rated as a Distinguished provider by MediFind in the treatment of Dopamine Beta-Hydroxylase Deficiency. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Atrial Fibrillation, Arrhythmias, Ectopic Heartbeat, Pacemaker Implantation, and Cardiac Ablation. Dr. Oddis is board certified in American Board Of Internal Medicine and American Board Of Internal Medicine - Cardiovascular Disease. Dr. Oddis is currently accepting new patients.
Published Date: July 31, 2024
Published By: National Institutes of Health