dopamine beta-hydroxylase deficiency
MeSH: C535600ORPHA: 230
Overview
genetic metabolic disorder
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with dopamine beta-hydroxylase deficiency, sourced from HPO and Orphanet clinical annotations.
Orthostatic hypotensionBilateral ptosisElevated urinary dopamine levelRhinitisSyncopeReduced tendon reflexesAnemiaHypoglycemiaSleep disturbanceIncreased blood urea nitrogenElevated circulating creatinine concentrationExercise-induced muscle fatigueFatigueRetrograde ejaculationNocturiaBlurred visionHypotoniaDehydrationVomitingDiarrheaHypothermiaDyspneaVertigoAbnormal EKGOrthostatic syncopeChest painHyperinsulinemiaInsulin resistance
Classification & Codes
MeSH Code
C535600Orphanet Code
ORPHA:230dopamine beta-hydroxylase deficiency
| MeSH | C535600 |
| Orphanet | ORPHA:230 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO