Results 11 to 20 of about 19,626,692 (182)

Successful intrauterine treatment of a patient with cobalamin C defect [PDF]

Molecular Genetics and Metabolism Reports, 2016
Cobalamin C (cblC) defect is an inherited autosomal recessive disorder that affects cobalamin metabolism. Patients are treated with hydroxycobalamin to ameliorate the clinical features of early-onset disease and prevent clinical symptoms in late-onset ...
Friedrich K. Trefz, Dagmar Scheible, Georg Frauendienst-Egger, Martina Huemer, Terttu Suomala, Brian Fowler, Dorothea Haas, Matthias R. Baumgartner   +7 more
doaj   +6 more sources

Early neurodevelopmental characterization in children with cobalamin C/defect [PDF]

Journal of Inherited Metabolic Disease, 2020
AbstractCobalamin C (cblC) defect is the most common inherited disorder of cobalamin metabolism. Developmental delay, behavioral problems, and maculopathy are common, but they have not been systematically investigated. The aim of this study was to define early neurodevelopment in cblC patients and the possible contribution of different factors, such as
Ricci D., Martinelli D., Ferrantini G., Lucibello S., Gambardella M., Olivieri G., Chieffo D., Battaglia D., Diodato D., Iarossi G., Donati A. M., Dionisi-Vici C., Battini R., Mercuri E. M.   +13 more
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Neuropsychiatric Disturbances in Presumed Late-Onset Cobalamin C Disease [PDF]

Archives of Neurology, 2003
Combined methylmalonic aciduria and homocystinuria cobalamin C type (cobalamin C disease) is an inborn metabolic disorder consisting of an impaired intracellular synthesis of the 2 active forms of vitamin B12 (cobalamin), namely, adenosylcobalamin and methylcobalamin, that results in increased levels of methylmalonic acid and homocysteine in the blood ...
Roze, Emmanuel, Gervais, David, Demeret, Sophie, Ogier de Baulny, Hélène, Zittoun, Jacqueline, Benoist, Jean-François, Said, Gérard, Pierrot-Deseilligny, Charles, Bolgert, Francis   +8 more
core   +6 more sources

Diverse Clinical manifestations of Cobalamin C Metabolism Disorders. [PDF]

Iranian journal of child neurology
Cobalamin, commonly known as vitamin B12, is a crucial micronutrient synthesized predominantly by a few microorganisms. In the human body, Vitamin B12 (Cobalamin) is essential for DNA synthesis and is required as a cofactor for functioning two crucial enzymes, methylmalonyl-CoA mutase and methionine synthase. The deficiency in these cobalamin-derivated
Eslamiyeh, Hossein
openaire   +3 more sources

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type

Heliyon
Methylmalonic aciduria and homocystinuria, cobalamin C type (cblC), constitute the most common inborn error of intracellular cobalamin metabolism. Here, we report the case of a 6-month-old child, presenting severe subacute neurological decline associated
Etienne Mondesert, Bastien Baud, Agathe Roubertie, Jean-François Benoist, Pierre-Edouard Grillet, Jean-Paul Cristol, Marie Céline Francois-Heude, Manuel Schiff, Stéphanie Badiou   +8 more
doaj   +2 more sources

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
openaire   +4 more sources

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   +4 more sources

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Rosenblatt, D S, Suormala, T, Stucki, M, Newbold, R F, Coelho, D, Fowler, B, Lerner-Ellis, J P   +6 more
core   +5 more sources

Cobalamin C Deficiency–Associated Pigmentary Retinopathy [PDF]

JAMA Ophthalmology, 2015
A12-year-oldgirlhadpoorvision inbotheyessincechildhood.Visual acuitywas counting fingerswith associatednystagmus. Theelectroretinogramwasnonrecordable.Hermedicalhistorywasnotableforfailuretothrive,methylmalonicaciduria,andhomocystinuria.Genetictesting revealedmutations in theMMACHC gene.
José María, Garcia-Gonzalez, Ashley E, Neiweem, Michael A, Grassi   +2 more
openaire   +2 more sources

A case of late-onset cobalamin C disease (methylmalonic aciduria and homocystinuria, cobalamin C type)

Rinsho Shinkeigaku, 2015
We report the case of an 18-year-old Japanese woman with cobalamin (cbl) C disease. She was born between non- consanguineous parents, and had easy fatigability from a childhood. At 14 years old, she developed renal failure, and had repeated psychosis during 2 years.
Mikie, Yamamoto, Kenichi, Yasui, Yasuhiro, Watanabe, Hisanori, Kowa, Seiji, Yamaguchi, Kenji, Nakashima   +5 more
openaire   +3 more sources