Results 151 to 160 of about 8,712 (196)

Treatment of cobalamin C (cblC) deficiency during pregnancy

Journal of Inherited Metabolic Disease, 2010
AbstractObjectiveTo report the successful pregnancy of a woman with methylmalonic acidemia and hyperhomocysteinemia, cblC type [cobalamin C (cblC) deficiency] (MIM 277400).MethodRetrospective chart review.ResultsA 24‐year‐old woman presented at 14 weeks gestation with nausea, self‐restricted protein diet, and weight loss.
Catherine, Brunel-Guitton, Teresa, Costa, Grant A, Mitchell, Marie, Lambert   +3 more
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Clinical and biochemical outcome with parenteral hydroxocobalamin mega-dosing in cobalamin C deficiency

Molecular Genetics and Metabolism, 2021
Abigail Kacpura, Kathryn Gunther, Marta Frigeni, Laura S. Farach   +3 more
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Glutathione metabolism in cobalamin deficiency type C (cblC)

Journal of Inherited Metabolic Disease, 2013
AbstractBackgroundMethylmalonic aciduria with homocystinuria, cblC defect, is the most frequent disorder of vitamin B12 metabolism. CblC patients are commonly treated with a multidrug therapy to reduce metabolite accumulation and to increase deficient substrates.
Anna, Pastore, Diego, Martinelli, Fiorella, Piemonte, Giulia, Tozzi, Sara, Boenzi, Gianna, Di Giovamberardino, Sara, Petrillo, Enrico, Bertini, Carlo, Dionisi-Vici   +8 more
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Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency

Neurology, 2020
To analyze the clinical characteristics of patients with hydrocephalus secondary to cobalamin C (cblC) deficiency and to discuss the optimal strategies for assessing and treating such patients by performing clinical and laboratory studies in 70 patients.A total of 1,211 patients were clinically diagnosed with methylmalonic acidemia (MMA) from 1998 to ...
Ruxuan He, Hongwu Zhang, Lulu Kang, Hui Li, Ming Shen, Yao Zhang, Ruo Mo, Yupeng Liu, Jinqing Song, Zhehui Chen, Yi Liu, Ying Jin, Mengqiu Li, Hui Dong, Hong Zheng, Dongxiao Li, Jiong Qin, Huifeng Zhang, Min Huang, Desheng Liang, Yaping Tian, Hongxin Yao, Yanling Yang   +22 more
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Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency

Pediatric Nephrology, 2015
Cobalamin C (CblC) defects are inherited autosomal recessive disorders of vitamin B12 metabolism due to mutations in the MMACHC gene. Renal manifestations include thrombotic microangiopathy (TMA), acute or chronic renal failure, tubulointerstitial nephritis, and proximal renal tubular acidosis. However, reports about glomerular pathologies are scarce.A
Koenig, Jens C, Rutsch, Frank, Bockmeyer, Clemens, Baumgartner, Matthias R, Beck, Bodo B, Kranz, Brigitta, Konrad, Martin   +6 more
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Cobalamin C deficiency presenting with diffuse alveolar hemorrhage and pulmonary microangiopathy

Pediatric Pulmonology, 2020
AbstractObjectiveCombined methylmalonic acidemia and homocysteinemia is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism, which consists of five subtypes including cblC, cblD, cblF, cblJ, and cblX deficiencies. The purpose of this study is to summarize new clinical features mainly diffuse alveolar hemorrhage (DAH) in cblC
Jinrong Liu, Xiaolei Tang, Chunju Zhou, Hui Xu, Haiming Yang, Ruxuan He, Huimin Li, Shunying Zhao   +7 more
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Pathobiological Insights into Neurological Involvement in Cobalamin C Deficiency

Journal of Pediatric Biochemistry, 2016
Cobalamin C (Cbl-C) defects are inherited autosomal recessive disorders of vitamin B 12 (or cyanocobalamin [CNCbl]) metabolism. These defects are caused by mutations in the methylmalonic aciduria and homocystinuria Cbl-C type ( MMACHC ; MIM # 609831) gene located on chromosome 1p34.1, which catalyzes the reductive decyanation of CNCbl, thus ...
Ceravolo F., Grisolia M., Nicolettti A., Sestito S., Salpietro V., Polizzi A., Ruggieri M., Bonapace G., Pascale E., Concolino D.   +9 more
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Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations

Metabolic Brain Disease, 2018
The Cobalamin C deficiency (cblC), characterized with elevated methylmalonic acidemia and homocystinuria in plasma, is an inborn error of cobalamin metabolism. The late-onset cblC siblings patients were rarely reported. In this study, we analyzed the clinical presentations and treatment outcomes of late-onset cblC in Chinese sibling patients with ...
Sheng-Jun, Wang, Chuan-Zhu, Yan, Yi-Ming, Liu, Yu-Ying, Zhao   +3 more
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[Kidney disease in cobalamin C deficiency].

Nephrologie & therapeutique, 2020
Cobalamin C deficiency (cblC) is the most common inborn error of vitamin B12 metabolism. This autosomal recessive disease is due to mutations in MMACHC gene, encoding a cyanocobalamin decyanase. It leads to hyperhomocysteinemia associated with hypomethioninemia and methylmalonic aciduria.
Mathilde, Lemoine, Steven, Grangé, Dominique, Guerrot   +2 more
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The octapeptide repeat PrP^C region and cobalamin‐deficient polyneuropathy of the rat

Muscle & Nerve, 2011
AbstractIntroduction: Cobalamin (Cbl) deficiency affects the peripheral nervous system (PNS) morphologically and functionally. We investigated whether the octapeptide repeat (OR) region of prion protein (PrPC) (which is claimed to have myelinotrophic properties) is involved in the pathogenesis of rat Cbl‐deficient (Cbl‐D) polyneuropathy.
Scalabrino, G, Mutti, E, Veber, D, RODRIGUEZ MENENDEZ, VIRGINIA, Novembrino, C, Calligaro, A, TREDICI, GIOVANNI   +6 more
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