TY  - JOUR
AU  - Zibold, Julia
AU  - von Livonius, Bettina
AU  - Kolarova, Hana
AU  - Rudolph, Günter
AU  - Priglinger, Claudia S
AU  - Klopstock, Thomas
AU  - Catarino, Claudia B
TI  - Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study.
JO  - Orphanet journal of rare diseases
VL  - 17
IS  - 1
SN  - 1750-1172
CY  - London
PB  - BioMed Central
M1  - DZNE-2022-01467
SP  - 310
PY  - 2022
AB  - 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
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Aged, 80 and over
KW  - Child
KW  - Child, Preschool
KW  - DNA, Mitochondrial: genetics
KW  - Female
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation: genetics
KW  - Optic Atrophy, Hereditary, Leber: epidemiology
KW  - Optic Atrophy, Hereditary, Leber: genetics
KW  - Prospective Studies
KW  - Vitamin B 12
KW  - Vitamin B 12 Deficiency: epidemiology
KW  - Vitamin B 12 Deficiency: genetics
KW  - Young Adult
KW  - Cobalamin (Other)
KW  - Hereditary optic atrophy (Other)
KW  - LHON (Other)
KW  - Leber optic atrophy (Other)
KW  - Mitochondrial disease (Other)
KW  - Vitamin B12 (Other)
KW  - DNA, Mitochondrial (NLM Chemicals)
KW  - Vitamin B 12 (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:35945620
C2  - pmc:PMC9361590
DO  - DOI:10.1186/s13023-022-02453-z
UR  - https://pub.dzne.de/record/165165
ER  -