KEGG   DISEASE: H01005Help
Entry
H01005                      Disease                                

Name
Dopamine beta-hydroxylase deficiency;
Norepinephrine deficiency;
Noradrenaline deficiency
Description
Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series of mutations in the DBH gene encoding the key enzyme in noradrenaline synthesis.
Category
Nervous system disease
BRITE hierarchy
Pathway
Tyrosine metabolism
Gene
DBH [HSA:1621] [KO:K00503]
Marker
Complete absence of noradrenaline and adrenaline in plasma.
Increased dopamine plasma levels.
Drug
Droxidopa [DR:D01277]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Robertson D, Garland EM
  Title
Dopamine Beta-Hydroxylase Deficiency
  Journal
(1993)
Reference
  Authors
Senard JM, Rouet P
  Title
Dopamine beta-hydroxylase deficiency.
  Journal
Orphanet J Rare Dis 1:7 (2006)

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