Results 141 to 150 of about 19,626,692 (182)

Cobalamin C defect presenting as severe neonatal hyperammonemia

European Journal of Pediatrics, 2010
Cobalamin C (Cbl-C) defect is the most common inborn error of cobalamin metabolism which causes a block in the pathway responsible for the synthesis of its two metabolically active forms methyl- and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis.
Diego, Martinelli, Andrea, Dotta, Laura, Massella, Stefano, Picca, Alessandra, Di Pede, Sara, Boenzi, Chiara, Aiello, Carlo, Dionisi-Vici   +7 more
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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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[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 association of protein‐losing enteropathy with cobalamin C defect

Journal of Inherited Metabolic Disease, 1998
AbstractWe report a male infant with cobalamin C defect whose clinical course was complicated by diarrhoea suggestive of a protein‐losing enteropathy, failure to thrive, macrocytosis and thrombocytopenia which resolved with hydroxocobalamin treatment. Protein‐losing enteropathy has not previously been reported in association with cobalamin C defect and,
C, Ellaway, J, Christodoulou, R, Kamath, K, Carpenter, B, Wilcken   +4 more
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Cobalamin C defect: natural history, pathophysiology, and treatment

Journal of Inherited Metabolic Disease, 2010
AbstractCobalamin C (Cbl‐C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Cbl‐C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. The gene responsible
Diego, Martinelli, Federica, Deodato, Carlo, Dionisi-Vici   +2 more
openaire   +2 more sources

The Natural History of Retinal Degeneration in Association with Cobalamin C (cbl C) Disease

Ophthalmic Genetics, 2006
To describe the association between retinal degeneration and cobalamin C (cblC) disease and to review previously published ophthalmic data regarding cblC disease.Descriptive case series of three patients and compilation of all previously reported cases of cblC disease in the ophthalmic literature.All three new cases presented with macular pigmentary ...
Andrew M, Schimel, Marilyn Baird, Mets
openaire   +2 more sources

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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Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2012
To report the ocular complications of cobalamin-C type methylmalonic aciduria with homocystinuria (cblC) in a large consecutive series of patients.Medical records of patients with genetically diagnosed cblC disease from Mount Sinai Medical Center, New York, and Hôpital Necker, Paris, France, were reviewed.
Leah R, Fuchs, Matthieu, Robert, Isabelle, Ingster-Moati, Lucia, Couette, Jean-Louis, Dufier, Pascale, de Lonlay, Scott E, Brodie   +6 more
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Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency

Annals of Neurology, 2001
AbstractTwo adult brothers, one documented to have methylmalonic acidemia with homocystinuria, or cobalamin C deficiency, after autopsy, displayed severe but divergent neurological presentations. One exhibited a myelopathy and the other chronic endocrine problems (Schmidt's syndrome) followed by a neuropsychiatric and dementing disorder owing to ...
J M, Powers, D S, Rosenblatt, R E, Schmidt, A H, Cross, J T, Black, A B, Moser, H W, Moser, D J, Morgan   +7 more
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Maculopathy Due to Cobalamin C (cb1C) Disease in an Amish Child

Journal of Pediatric Ophthalmology & Strabismus, 2010
A 5-year-old Amish boy diagnosed at birth as having a defect in intracellular cobalamin metabolism, cobalamin C disease (cb1C), presented to the pediatric ophthalmology service with severe visual impairment. Ophthalmoscopy showed bilateral bull's eye macular lesions. Visual loss occurs from retinal degeneration in cb1C disease.
Lorna W, Grant, Shawn E, McCandless, Elias I, Traboulsi   +2 more
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