GTR Home > Conditions/Phenotypes > Dopamine beta hydroxylase deficiency

Disease characteristics

Excerpted from the GeneReview: Dopamine Beta-Hydroxylase Deficiency
Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function but normal parasympathetic and sympathetic cholinergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function that predispose to orthostatic hypotension. Although DBH deficiency appears to be present from birth, the diagnosis is not generally recognized until late childhood. The combination of ptosis of the eyelids in infants and children, together with hypotension, is suggestive of the disease. In the perinatal period, DBH deficiency has been complicated by vomiting, dehydration, hypotension, hypothermia, and hypoglycemia requiring repeated hospitalization; children have reduced exercise capacity. By early adulthood, individuals have profound orthostatic hypotension, greatly reduced exercise tolerance, ptosis of the eyelids, and nasal stuffiness. Presyncopal symptoms include dizziness, blurred vision, dyspnea, nuchal discomfort, and chest pain. Life expectancy is unknown, but some affected individuals have lived beyond 60 years.

Available tests

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Associated genes

Clinical features

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  • Orthostatic hypotension
  • Intermittent hypothermia
  • Seizure
  • Nocturia
  • High palate
  • Ptosis
  • Neonatal hypoglycemia
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