Results 21 to 30 of about 19,626,692 (182)

Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

Molecular Genetics and Metabolism Reports, 2020
Background: Methylmalonic acidaemia with homocystinuria type C (cblC defect) is an inherited error of cobalamin metabolism. Cobalamin deficient processing results in high levels of methylmalonic acid and homocysteine.
Luca Pollini, Manuela Tolve, Francesca Nardecchia, Serena Galosi, Claudia Carducci, Emanuele di Carlo, Carla Carducci, Vincenzo Leuzzi   +7 more
doaj   +1 more source

Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

Frontiers in Neurology, 2020
Background: Cobalamin C (cblC) has a fundamental role in both central and peripheral nervous system function at any age. Neurologic manifestations may be the earliest and often the only manifestation of hereditary or acquired cblC defect.
Xujun Chu, Lingchao Meng, Wei Zhang, Jinjun Luo, Zhaoxia Wang, Yun Yuan   +5 more
doaj   +1 more source

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease

iScience, 2022
Summary: Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization of vitamin B12 (B12) lead to hematological and neurological manifestations.
Anna J. Esser, Srijan Mukherjee, Ilia A. Dereven’kov, Sergei V. Makarov, Donald W. Jacobsen, Ute Spiekerkoetter, Luciana Hannibal   +6 more
doaj   +1 more source

The relationship of recurrent aphthous stomatitis and Helicobacter pylori, cytokine gene polymorphism and cobalamin

The Turkish Journal of Gastroenterology, 2015
Background/Aims: The aim of the present study was to investigate whether Helicobacter pylori causes or triggers recurrent aphthous stomatitis (RAS) through cytokine gene polymorphism and/or cobalamin deficiency. Materials and Methods: Thirty-six patients
Tolga Yakar, Ender Serin, Arif Mansur Coşar, Didem Arslan Taş, Fatma Belgin Ataç   +4 more
doaj   +1 more source

Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature. [PDF]

, 2022
Cobalamin C disease is the most common complementation class of cobalamin disorders. Here, we present a case of a 14-yr-old male with early-onset cblC disease and autism spectrum disorder (ASD) admitted to our inpatient medical service for behavioral ...
Modirian, Faraz, Mardach, Rebecca, Nguyen, Minh G, Tronick, Lauren, Besterman, Aaron D, Faraz Modirian, Rebecca Mardach, Aaron D Besterman, Minh G Nguyen, Lauren Tronick   +9 more
core   +1 more source

Hydroxocobalamin for cobalamin C: which dosage? [PDF]

Journal of Inherited Metabolic Disease, 2010
Editor, I read the recent report by Carrillo-Carrasco et al. with a great interest (Carrillo-Carrasco et al. 2009). They reported a case of cobalamin C (CblC) and concluded that “higher hydroxocobalamin (OHCbl) doses might be required to achieve an optimal biochemical response in CblC patients, but it is unknown whether it may slow or eliminate other ...
openaire   +1 more source

MTRR rs326119 polymorphism is associated with plasma concentrations of homocysteine and cobalamin, but not with congenital heart disease or coronary atherosclerosis in Brazilian patients

International Journal of Cardiology: Heart & Vasculature, 2017
Background: Differences in the distribution of the MTRR rs326119 polymorphism (c.56+781 A>C) between patients with congenital heart disease (CHD) and controls have been described in Chinese individuals.
Melanie Horita, Carolina Tosin Bueno, Andrea R Horimoto, Pedro A Lemos, Antonio A Morandini-Filho, Jose E Krieger, Paulo C J L Santos, Alexandre C Pereira   +7 more
doaj   +1 more source

Nonnative Thiol and Aniline Methylation, Including Enantioselective Dithiol Desymmetrization, by Multicomponent Cobamide‐Dependent Methyltransferases Using Unactivated Methyl Donors

Angewandte Chemie, EarlyView.
Mixed MtaABC/MtgABC methyltransferase systems were developed for non‐native thiol and aniline methylation using the unactivated methyl donors methanol and glycine betaine. The platform enabled site‐selective and enantioselective methylation with turnover number up to 6000, representing the first enantioselective non‐native catalysis by cobamide ...
Amardeep Kumar, Osman Ishag Adam, Paras Gupta, Jared C. Lewis   +3 more
wiley   +2 more sources

Outcomes of patients with cobalamin C deficiency: A single center experience [PDF]

JIMD Reports, 2020
AbstractBiallelic variants in MMACHC results in the combined methylmalonic aciduria and homocystinuria, called cobalamin (cbl) C (cblC) deficiency. We report 26 patients with cblC deficiency with their phenotypes, genotypes, biochemical parameters, and treatment outcomes, who were diagnosed and treated at our center.
Danielle K. Bourque, Lizbeth E. Mellin‐Sanchez, Garrett Bullivant, Vivian Cruz, Anette Feigenbaum, Stacy Hewson, Julian Raiman, Andreas Schulze, Komudi Siriwardena, Saadet Mercimek‐Andrews   +9 more
openaire   +2 more sources

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria

The Journal of Pediatrics, 1988
The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form of methylmalonic acidemia and homocystinuria. When daily injections of 1 mg OH-B12 were discontinued for 3 weeks, there was no significant change in total plasma homocysteine or methionine levels and only a modest increase ...
D W, Bartholomew, M L, Batshaw, R H, Allen, C R, Roe, D, Rosenblatt, D L, Valle, C A, Francomano   +6 more
openaire   +2 more sources