Dopamine beta-hydroxylase deficiency
نویسندگان
چکیده
منابع مشابه
Dopamine beta-hydroxylase deficiency
Dopamine beta-hydroxylase (DbetaH) deficiency is a very rare form of primary autonomic failure characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma levels. The prevalence of DbetaH deficiency is unknown. Only a limited number of cases with this disease have been reported. DbetaH deficiency is mainly characterized by cardiovascular...
متن کاملSerum dopamine-beta-hydroxylase activity.
Dopamine-yS-liydroxylase, the enzyme which converts dopamine to norepinephrine, is released into the perfusate upon stimulation of the isolated perfused adrenal gland and after stimulation of the nerves to the isolated perfused spleen. This study was undertaken to determine whether dopamine-/?hydroxylase activity could be detected circulating in blood. By using a sensitive new enzymatic assay, ...
متن کاملDopamine-beta-hydroxylase effectors in neuroblastoma.
Investigation of dopamine-beta-hydroxylase (DBH) serum activity as a potential diagnostic/prognostic tool for neuroblastoma did not confirm previous reports. However, age-dependent differences in normal children's DBH "activation" by water dilution +/- copper addition was revealed. These findings of age-related DBH effector differences suggest that the strong age relationship of DBH activity ma...
متن کاملReflex control of sympathetic nerve activity in dopamine beta-hydroxylase deficiency.
Patients with autonomic failure secondary to dopamine beta-hydroxylase deficiency lack the enzyme activity necessary for the conversion of dopamine to norepinephrine in sympathetic nerve terminals and the adrenal medulla. These patients have virtually undetectable norepinephrine and epinephrine in plasma and cerebrospinal fluid. The presence of intact sympathetic nerve activity in these patient...
متن کاملPlasma dopamine-beta-hydroxylase activity in oral contraceptive hypertension.
A prospective study was undertaken to evaluate the relative contribution of changes in sympathetic nervous system activity, as reflected by changes in dopamine-beta-hydroxylase (DBH) activity, to the pathogenesis of oral contraceptive-induced hypertension. Precontraceptive and serial post contraceptive determinations of blood pressure, plasma renin activity (PRA), DBH activity, and changes in b...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2006
ISSN: 1750-1172
DOI: 10.1186/1750-1172-1-7