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Dopamine-beta-hydroxylase deficiency in humans.

I Biaggioni1, D S Goldstein, T Atkinson

  • 1Autonomic Dysfunction Center, Vanderbilt University, Nashville, TN 37232.

Neurology
|February 1, 1990
PubMed
Summary

Dopamine-beta-hydroxylase deficiency is an autonomic disorder causing severe orthostatic hypotension and other symptoms due to a lack of norepinephrine. Diagnosis involves measuring plasma norepinephrine and dopamine levels.

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Area of Science:

  • Neurology
  • Autonomic Disorders

Background:

  • Dopamine-beta-hydroxylase deficiency is a rare genetic disorder affecting the autonomic nervous system.
  • It leads to a critical lack of norepinephrine, a key neurotransmitter.

Observation:

  • A 42-year-old man presented with lifelong symptoms including severe orthostatic hypotension, ptosis, nasal stuffiness, hyperextensible joints, and retrograde ejaculation.
  • Neurons affected by this deficiency produce and release dopamine instead of norepinephrine.

Findings:

  • The study highlights the clinical manifestations of dopamine-beta-hydroxylase deficiency in an adult.
  • It emphasizes the neurotransmitter switch from norepinephrine to dopamine in affected neurons.
  • The disorder should also be considered in infants with symptoms like delayed eye opening, hypoglycemia, hypothermia, or hypotension.

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Implications:

  • Early diagnosis and management of dopamine-beta-hydroxylase deficiency are crucial for patient outcomes.
  • Assessing plasma norepinephrine and dopamine levels provides a definitive diagnostic method.
  • Understanding this condition improves the diagnosis and treatment of autonomic neuropathies.