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Congenital Disorders of Noradrenergic Neurotransmission by Italo Biaggioni; Emily M. Garland; Cyndya A. Shibao is a book available to read on EtoBox.

What is Congenital Disorders of Noradrenergic Neurotransmission about?

In this chapter, we review four congenital disorders that impair noradrenergic neurotransmission, causing distinct autonomic phenotypes. In familial autonomic ganglionopathy, a mutation in the nicotinic neural receptor interrupts autonomic ganglia neurotransmission resulting in sympathetic and parasympathetic failure. Dopamine-β-hydroxylase and cytochrome b561 deficiencies are two genetic disorders that impair norepinephrine synthesis causing selective sympathetic failure with normal parasympathetic and sympathetic cholinergic functions. The clinical presentation of these three genetic disorders is that of profound orthostatic hypotension. In contrast, norepinephrine reuptake deficiency, due to a mutation in the norepinephrine transporter, has a hyperadrenergic phenotype with postural tachycardia, as inhibition of norepinephrine reuptake into the nerve terminal leads to elevated intrasynaptic norepinephrine levels.

Author

Italo Biaggioni; Emily M. Garland; Cyndya A. Shibao

Publisher

Academic Press, an imprint of Elsevier

Published

2023

Language

EN

ISBN

9780323854931

Subjects

Science, Medical, Medicine