Dopamine B hydroxylase deficiency responsible for severe dysautonomic orthostatic hypotension in an elderly patient

J Am Geriatr Soc. 1993 May;41(5):550-1. doi: 10.1111/j.1532-5415.1993.tb01894.x.

Abstract

We report the case of an elderly woman with severe dysautonomic orthostatic hypotension in whom a deficit in dopamine B hydroxylase has been established. In the literature, such a deficit has been described in six young adults with long standing symptoms of postural hypotension. This enzyme catalyses the conversion of dopamine to noradrenaline. In our elderly patient, noradrenaline and adrenaline were undetectable in the plasma, but plasma dopamine was detectable. Treatment with the synthetic amino acid, DL-threo-dihydroxyphenylserine, which is converted to noradrenaline by dopa-decarboxylase, resulted in a significant increase in blood pressure. The mechanism of this acquired deficit is not elucidated.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Aged, 80 and over
  • Autonomic Nervous System Diseases / etiology*
  • Biological Assay
  • Blood Pressure / drug effects
  • Dopamine / blood
  • Dopamine beta-Hydroxylase / deficiency*
  • Dopamine beta-Hydroxylase / physiology
  • Droxidopa / administration & dosage
  • Droxidopa / pharmacology
  • Droxidopa / therapeutic use
  • Epinephrine / blood
  • Female
  • Humans
  • Hypotension, Orthostatic / etiology*
  • Metabolic Diseases / complications
  • Metabolic Diseases / diagnosis*
  • Metabolic Diseases / drug therapy
  • Norepinephrine / blood

Substances

  • Dopamine beta-Hydroxylase
  • Droxidopa
  • Dopamine
  • Norepinephrine
  • Epinephrine