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Dopamine beta-hydroxylase deficiency

Orpha number ORPHA230
Synonym(s) Noradrenaline deficiency
Norepinephrine deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • G90.8
ICD-O -
OMIM
UMLS
  • C0342687
MeSH
  • C535600
MedDRA -

Summary

Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure. The prevalence of DBH deficiency is unknown. Only a limited number of cases with this disease have been reported. DBH deficiency is mainly characterised by cardiovascular disorders and severe orthostatic hypotension. First symptoms often start during the perinatal period with hypotension, muscle hypotonia, hypothermia and hypoglycaemia. Children with DBH deficiency exhibit reduced ability to exercise because of blood pressure inadaptation, with exertion possibly leading to syncope. Symptoms usually worsen progressively during late adolescence and early adulthood with severe orthostatic hypotension, eyelid ptosis, nasal stuffiness and sexual disorders. The long-term evolution of the disease may be marked by limitations in standing tolerance, limited ability to exercise and morbidity related to trauma caused by falls and syncope. The disease is inherited in an autosomal recessive manner and is associated with heterogeneous molecular alterations of the DBH gene, which result in a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma levels. Restoration of plasma noradrenaline to within the normal range can be achieved by precursor therapy with L-threo-dihydroxyphenylserine (DOPS). Oral administration of 100 to 500 mg of DOPS, twice or three times a day, increases blood pressure and reverses the orthostatic intolerance.

Expert reviewer(s)

  • Dr Rouet PHILIPPE
  • Pr Jean-Michel SENARD

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Detailed information

Clinical genetics review
  • EN (2013)
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