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000165165 037__ $$aDZNE-2022-01467
000165165 041__ $$aEnglish
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000165165 1001_ $$aZibold, Julia$$b0
000165165 245__ $$aVitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study.
000165165 260__ $$aLondon$$bBioMed Central$$c2022
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000165165 520__ $$aLeber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder, frequently resulting in acute or subacute severe bilateral central vision loss. Vitamin B12 deficiency is also a known cause of optic neuropathy through mitochondrial dysfunction. Here we evaluated the prevalence and clinical significance of vitamin B12 deficiency in a large cohort of LHON patients and asymptomatic mutation carriers from a tertiary referral center.From the Munich LHON prospective cohort study, participants included all LHON patients and asymptomatic LHON mutation carriers, who were recruited between February 2014 and March 2020 and consented to participate. Neurological, general, and ophthalmological examinations were regularly performed, as were laboratory tests. Vitamin B12 deficiency was diagnosed if serum vitamin B12 was below 201 pg/mL, or if 201-339 pg/mL plus low serum holotranscobalamin or elevated serum methylmalonic acid or elevated total plasma homocysteine.We analyzed 244 subjects, including 147 symptomatic LHON patients (74% males) and 97 asymptomatic mutation carriers (31% males). Median age at study baseline was 34 years (range 5-82 years). The prevalence of vitamin B12 deficiency was higher for LHON mutation carriers than for the general population in all age categories. This was statistically significant for the LHON mutation carriers under 65 years (21% vs. 5-7%, p = 0.002). While vitamin B12 deficiency prevalence was not statistically different between LHON patients and asymptomatic mutation carriers, its clinical correlates, e.g., macrocytosis and polyneuropathy, were more frequent in the subgroup of LHON patients. Excessive alcohol consumption was a significant predictor of vitamin B12 deficiency (p < 0.05).The high prevalence of vitamin B12 deficiency in LHON mutation carriers, both asymptomatic mutation carriers and LHON patients, highlights the need for regular vitamin B12 screening in this population, in order to ensure early treatment, aiming for better outcomes. Our study is not conclusive regarding vitamin B12 deficiency as determinant for disease conversion in LHON, and further research is warranted to disentangle the role of vitamin B12 in the pathophysiology and prognosis of LHON.
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000165165 650_7 $$2Other$$aCobalamin
000165165 650_7 $$2Other$$aHereditary optic atrophy
000165165 650_7 $$2Other$$aLHON
000165165 650_7 $$2Other$$aLeber optic atrophy
000165165 650_7 $$2Other$$aMitochondrial disease
000165165 650_7 $$2Other$$aVitamin B12
000165165 650_7 $$2NLM Chemicals$$aDNA, Mitochondrial
000165165 650_7 $$0P6YC3EG204$$2NLM Chemicals$$aVitamin B 12
000165165 650_2 $$2MeSH$$aAdolescent
000165165 650_2 $$2MeSH$$aAdult
000165165 650_2 $$2MeSH$$aAged
000165165 650_2 $$2MeSH$$aAged, 80 and over
000165165 650_2 $$2MeSH$$aChild
000165165 650_2 $$2MeSH$$aChild, Preschool
000165165 650_2 $$2MeSH$$aDNA, Mitochondrial: genetics
000165165 650_2 $$2MeSH$$aFemale
000165165 650_2 $$2MeSH$$aHumans
000165165 650_2 $$2MeSH$$aMale
000165165 650_2 $$2MeSH$$aMiddle Aged
000165165 650_2 $$2MeSH$$aMutation: genetics
000165165 650_2 $$2MeSH$$aOptic Atrophy, Hereditary, Leber: epidemiology
000165165 650_2 $$2MeSH$$aOptic Atrophy, Hereditary, Leber: genetics
000165165 650_2 $$2MeSH$$aProspective Studies
000165165 650_2 $$2MeSH$$aVitamin B 12
000165165 650_2 $$2MeSH$$aVitamin B 12 Deficiency: epidemiology
000165165 650_2 $$2MeSH$$aVitamin B 12 Deficiency: genetics
000165165 650_2 $$2MeSH$$aYoung Adult
000165165 7001_ $$avon Livonius, Bettina$$b1
000165165 7001_ $$aKolarova, Hana$$b2
000165165 7001_ $$aRudolph, Günter$$b3
000165165 7001_ $$aPriglinger, Claudia S$$b4
000165165 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b5$$udzne
000165165 7001_ $$00000-0002-6528-7570$$aCatarino, Claudia B$$b6
000165165 773__ $$0PERI:(DE-600)2225857-7$$a10.1186/s13023-022-02453-z$$gVol. 17, no. 1, p. 310$$n1$$p310$$tOrphanet journal of rare diseases$$v17$$x1750-1172$$y2022
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