Results 1 to 10 of about 19,626,692 (182)

Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease [PDF]

Frontiers in Medicine, 2022
BackgroundMutation of MMACHC causes inherited cobalamin C disease with methylmalonic academia (MMA) and homocysteinemia. Renal complications may also be present in patients with this deficiency.
Qiang Wang, Qi Wang, Yanxia Gao, Chenquan Tang, Zhaoli Gao, Zhao Hu   +5 more
doaj   +3 more sources

Cobalamin cbiP mutant shows decreased tolerance to low temperature and copper stress in Listeria monocytogenes

Biological Research, 2022
Background Listeria monocytogenes is a foodborne pathogen that causes listeriosis in humans. This pathogen activates multiple regulatory mechanisms in response to stress, and cobalamin biosynthesis might have a potential role in bacterial protection. Low
L. Vásquez, A. Parra, A. M. Quesille-Villalobos, G. Gálvez, P. Navarrete, M. Latorre, M. Toro, M. González, A. Reyes-Jara   +8 more
doaj   +1 more source

Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations

Stem Cell Research, 2022
Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect.
Jing Luan, Hui Zou, Yazhou Cui, Jing Wang, Zhenzhong Han, Genglin Zhang, Jinxiang Han   +6 more
doaj   +1 more source

Astrogliosis in an Experimental Model of Hypovitaminosis B12: A Cellular Basis of Neurological Disorders due to Cobalamin Deficiency

Cells, 2020
Cobalamin deficiency affects human physiology with sequelae ranging from mild fatigue to severe neuropsychiatric abnormalities. The cellular and molecular aspects of the nervous system disorders associated with hypovitaminosis B12 remain largely unknown.
Zuzanna Rzepka, Jakub Rok, Justyna Kowalska, Klaudia Banach, Justyna Magdalena Hermanowicz, Artur Beberok, Beata Sieklucka, Dorota Gryko, Dorota Wrześniok   +8 more
doaj   +1 more source

Response of Human Glioblastoma Cells to Vitamin B12 Deficiency: A Study Using the Non-Toxic Cobalamin Antagonist

Biology, 2021
The most important biological function of vitamin B12 is to accomplish DNA synthesis, which is necessary for cell division. Cobalamin deficiency may be especially acute for rapidly dividing cells, such as glioblastoma cells.
Zuzanna Rzepka, Jakub Rok, Mateusz Maszczyk, Artur Beberok, Justyna Magdalena Hermanowicz, Dariusz Pawlak, Dorota Gryko, Dorota Wrześniok   +7 more
doaj   +1 more source

Delayed diagnosis of cobalamin E defect in an adolescent patient

Journal of Pediatric Neurosciences, 2020
Cobalamin and its metabolites play a critical role in deoxyribonucleic acid synthesis. Disorders of cobalamin metabolism are rare and related with neurological and hematological problems.
Merve Koc Yekeduz, Elif Unal Ince, Talia Ileri, Mehmet Ertem, Fatma Tuba Eminoglu   +4 more
doaj   +1 more source

A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans

FEBS Open Bio, 2014
In this study, we showed that cyanocobalamin dodecylamine, a ribose 5′-carbamate derivative of cyanocobalamin, was absorbed and accumulated to significant levels by Caenorhabditis elegans and was not further metabolized.
Tomohiro Bito, Yukinori Yabuta, Tsuyoshi Ichiyanagi, Tsuyoshi Kawano, Fumio Watanabe   +4 more
doaj   +1 more source

Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder

JIMD Reports, 2020
Combined methylmalonic aciduria and homocystinuria (cobalamin C deficiency, cblC) is a well‐described disorder of vitamin B12 metabolism caused by mutations in the MMACHC gene with multisystemic manifestations.
Ashley Wilson, Vivian Cruz, Jonathan B. Kronick   +2 more
doaj   +1 more source

Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene—a case report

BMC Medical Genetics, 2020
Background Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations.
Jing Ruan, Bing Han, Junling Zhuang, Miao Chen, Fangfei Chen, Yuzhou Huang, Wenzhe Zhou   +6 more
doaj   +1 more source

Rare cause of coronary artery ectasia in children: A case report of methylmalonic acidemia with hyperhomocysteinemia

Frontiers in Pediatrics, 2022
BackgroundMethylmalonic acidemia (MMA) with hyperhomocysteinemia is caused by cobalamin deficiency, mainly due to disturbance of cobalamin C (cblC) metabolism. Its clinical manifestations involve many organs.
Tu Juan, Chen Chao-ying, Li Hua-rong, Wan Ling   +3 more
doaj   +1 more source