Orthostatic intolerance due to NET deficiency
Alternate names
Postural orthostatic tachycardia syndrome due to NET deficiency; POTS due to NET deficiency; Familial orthostatic tachycardia due to norepinephrine transporter deficiency; Postural tachycardia syndrome due to NET deficiency
Definition
A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.
NIH genetic and rare disease info
Orthostatic intolerance due to NET deficiency is a rare disease.
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