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
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C59 Inborn errors of neurotransmitter metabolism
H01005 Dopamine beta-hydroxylase deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06028 Dopamine and serotonin metabolism
H01005 Dopamine beta-hydroxylase deficiency