%0 Journal Article
%A Zibold, Julia
%A von Livonius, Bettina
%A Kolarova, Hana
%A Rudolph, Günter
%A Priglinger, Claudia S
%A Klopstock, Thomas
%A Catarino, Claudia B
%T Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study.
%J Orphanet journal of rare diseases
%V 17
%N 1
%@ 1750-1172
%C London
%I BioMed Central
%M DZNE-2022-01467
%P 310
%D 2022
%X Leber 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
%K Adolescent
%K Adult
%K Aged
%K Aged, 80 and over
%K Child
%K Child, Preschool
%K DNA, Mitochondrial: genetics
%K Female
%K Humans
%K Male
%K Middle Aged
%K Mutation: genetics
%K Optic Atrophy, Hereditary, Leber: epidemiology
%K Optic Atrophy, Hereditary, Leber: genetics
%K Prospective Studies
%K Vitamin B 12
%K Vitamin B 12 Deficiency: epidemiology
%K Vitamin B 12 Deficiency: genetics
%K Young Adult
%K Cobalamin (Other)
%K Hereditary optic atrophy (Other)
%K LHON (Other)
%K Leber optic atrophy (Other)
%K Mitochondrial disease (Other)
%K Vitamin B12 (Other)
%K DNA, Mitochondrial (NLM Chemicals)
%K Vitamin B 12 (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:35945620
%2 pmc:PMC9361590
%R 10.1186/s13023-022-02453-z
%U https://pub.dzne.de/record/165165