dopamine beta-hydroxylase deficiency

An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotensio

An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.

Signs and symptoms

• Orthostatic hypotension
• Elevated circulating dihydroxyphenylacetic acid concentration
• Retrograde ejaculation
• Reduced circulating dopamine beta-hydroxylase activity
• Ptosis
• Reduced circulating prolactin concentration
• Nocturia
• Intermittent hypothermia
• Joint hypermobility
• Lack of pupillary response to hydroxyamphetamine

Also known as: congenital dopamine beta-hydroxylase deficiency; noradrenaline deficiency; norepinephrine deficiency