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Article

Congenital absence of norepinephrine due to CYB561 mutations.

Neurology - 14 Jan 2020

Shibao Cyndya A, Garland Emily M, Black Bonnie K, Mathias Christopher J, Grant Maria B, Root Allen W, Robertson David, Biaggioni Italo

Abstract excerpt

OBJECTIVE: Cytochrome b561 (CYB561) generates ascorbic acid, a cofactor in the enzymatic conversion of dopamine to norepinephrine by dopamine β-hydroxylase. We propose that the clinical relevance of this pathway can be revealed by characterizing the autonomic and biochemical characteristics of patients with CYB561 mutations. METHODS: We performed autonomic evaluations in 4 patients with lifelong orthostatic...

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Identifiers

PMID: 31822578
DOI: 10.1212/WNL.0000000000008734
PMCID: PMC6988982

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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