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NADH cytochrome B5 reductase deficiency

[Congenital methaemoglobinaemia--a rare cause of dyspnoea and cyanosis].

[Congenital methaemoglobinaemia--a rare cause of dyspnoea and cyanosis].

Ugeskr Laeger. 2011 Aug 29;173(35):2133-4

Authors: Rasmussen KB, Gantzhorn EK

Abstract
Dyspnoea in young people often leads to the diagnosis of asthma. A young female (with related parents) showed symptoms of cyanosis, dyspnoea and fatigue during physical activity despite asthma medication. High levels of methaemoglobin were measured. Genetic testing showed homozygote type 1b5r-deficiency. Cyanosis and lacking effect of asthma treatment should lead to further diagnostic evaluation with arterial blood gas analyses, including assessment of methaemoglobin. Congenitally inherited methaemoglobinaemia is a rare disease, but its diagnosis is important to ensure correct handling and treatment.

PMID: 21884667 [PubMed - indexed for MEDLINE]

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