Results 21 to 30 of about 19,992,265 (173)

A study into the cobalamin-dependent methionine synthase reactivation mechanism in corynebacterium glutamicum [PDF]

, 2009
PhDMethionine is one of the seven essential amino-acids for humans and is also used in feed supplements, predominantly for poultry and felines. Thus there is commercial interest in producing this nutrient. The final step in the biological synthesis of
Burton-Smith, Raymond Nathaniel
core   +3 more sources

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

Hemiconvulsion-Hemiplegia-Epilepsy in a girl with cobalamin C deficiency. [PDF]

Epileptic Disord, 2018
Hemiconvulsion-Hemiplegia-Epilepsy initially involves an infantile presentation of febrile focal motor status epilepticus, with subsequent hemiplegia of the initially affected side.
Myers KA, Dudley RW, Srour M.
europepmc   +2 more sources

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

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

Orphanet Journal of Rare Diseases, 2022
Background cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed.
Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li, Yao Zhang, Yanling Yang   +17 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

Vitamin B12 deficiency in an infant secondary to nutritional deficiency and an inadequate maternal diet. [PDF]

JPGN Rep
ABSTRACT Vitamin B12 (cobalamin, Cbl) is an essential micronutrient for DNA synthesis and neurological development. Its deficiency in infants, although infrequent in developed countries, can cause megaloblastic anemia, psychomotor delay, and neurological damage that may become irreversible if not treated early.
Sala-Lluch S, Mesas-Vila N, Ferrando-Monleón S, Barrés-Fernández A, Villar-Vera C, Arcos-Machancoses JV.   +5 more
europepmc   +2 more sources

Cobalamin deficiency and pathogenesis of neurological disorders [PDF]

, 2021
The brief review deals with the specific value of B vitamins for the nervous system, the mechanisms of transport and metabolic functions of cobalamin, pathogenetic theories related to vitamin B12 deficiency such as canonical biochemical theory and the ...
T. E. Potemina, S. V. Kuznetsova, A. V. Pereshein   +2 more
core   +1 more source

Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient

Frontiers in Neurology, 2023
IntroductionCobalamin C (cblC) deficiency is a rare hereditary disorder affecting intracellular cobalamin metabolism, primarily caused by mutations in MMACHC.
Qihua Chen, Jianguang Tang, Hainan Zhang, Lixia Qin   +3 more
doaj   +1 more source

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant

BMC Veterinary Research, 2018
Background Three Komondor dogs in a small family and 3 sporadic cases exhibited a constellation of signs that included juvenile-onset of failure-to-thrive, inappetence, vomiting and/or diarrhea, and weakness.
John C. Fyfe, Shelby L. Hemker, Alycia Frampton, Karthik Raj, Peter L. Nagy, Kristi J. Gibbon, Urs Giger   +6 more
doaj   +1 more source