Results 171 to 180 of about 1,993 (190)

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Nature Genetics, 2005
Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common inborn error of vitamin B(12) (cobalamin) metabolism, with about 250 known cases. Affected individuals have developmental, hematological, neurological, metabolic, ophthalmologic and dermatologic clinical findings. Although considered a disease of infancy or childhood,
Jordan P, Lerner-Ellis, Jamie C, Tirone, Peter D, Pawelek, Carole, Doré, Janet L, Atkinson, David, Watkins, Chantal F, Morel, T Mary, Fujiwara, Emily, Moras, Angela R, Hosack, Gail V, Dunbar, Hana, Antonicka, Vince, Forgetta, C Melissa, Dobson, Daniel, Leclerc, Roy A, Gravel, Eric A, Shoubridge, James W, Coulton, Pierre, Lepage, Johanna M, Rommens, Kenneth, Morgan, David S, Rosenblatt   +21 more
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Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)

Journal of Inherited Metabolic Disease, 1997
AbstractThe clbC form of methylmalonic acidaemia is a rare and poorly understood condition which results from impaired biosynthesis of methylcobalamin and adenosylcobalamin. The consequent functional deficiencies of methylmalonyl‐CoA mutase and methionine synthase produce both methylmalonic aciduria and homocystinuria.
D S, Rosenblatt, A L, Aspler, M I, Shevell, B A, Pletcher, W A, Fenton, M R, Seashore   +5 more
openaire   +2 more sources

Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria

Molecular Genetics and Metabolism, 2009
Patients with the cblC vitamin B(12) (cobalamin, cbl) disorder are defective in the intracellular synthesis of adenosylcobalamin and methylcobalamin and have combined homocystinuria and methylmalonic aciduria. While other vitamin B(12) disorders are treatable with high dose cyanocobalamin (CNCbl) or hydroxocobalamin (OHCbl), cblC patients respond well ...
D S, Froese, J, Zhang, S, Healy, R A, Gravel   +3 more
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Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation

European Journal of Pediatrics, 1992
Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart and hepatosplenomegaly. This was confirmed biochemically by the demonstration of glycogen accumulation in
Wijburg, F. A., Rosenblatt, D. S., Vos, G. D., Oorthuys, J. W., van't Hek, L. G., Poorthuis, B. J., Sanders, M. K., Schutgens, R. B.   +7 more
openaire   +2 more sources

Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder

Pediatric Nephrology, 2007
Diarrhea-positive hemolytic uremic syndrome (HUS) is a common cause of acute renal failure in children. Diarrhea-negative (D-), or atypical HUS, is etiologically distinct. A Medline search identified seven previously reported D- cases of HUS secondary to cobalamin C (cblC) disease presenting in infancy.
Ajay P, Sharma, Cheryl R, Greenberg, Asuri N, Prasad, Chitra, Prasad   +3 more
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Efficacy of monotherapy with hydroxocobalamin in patients with cblC deficiency

AbstractBackground: Cobalamin C (cblC) deficiency is the most frequent disease involving intracellular cobalamin metabolism. This study evaluates the efficacy of hydroxocobalamin (OHCbl) monotherapy in patients with stable cblC disease, aiming to simplify treatment strategies.Methods: This retrospective cohort study enrolled cblC patients with a follow-
Si Ding, Lili Hao, Yi Ding, Yuxin Deng, Ting Chen, Xia Zhan, Peng Xu, Chiju Yang, Hui Zou, Yongxing Chen, Shengnan Wu, Yufeng Wang, Min Yang, Lili Liang, Lianshu Han   +14 more
openaire   +1 more source

Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency

Journal of Neurology, 2022
Di Giacomo R., Salsano E., Deleo F., Pastori C., Didato G., Stabile A., Ferrario R., Giovagnoli A. R., Benzoni C., Sarro L., Visani E., Canafoglia L.   +11 more
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Methylmalonic Acidemia and Homocysteinemia: cblC and cblX Types

2023
Melika Mokhtari, Shaghayegh Khanmohammadi   +1 more
openaire   +1 more source

Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect

Molecular Genetics and Metabolism, 2013
Carlo, Dionisi-Vici, Diego, Martinelli, Ferdinando, Ceravolo, Sara, Boenzi, Anna, Pastore   +4 more
openaire   +2 more sources

CblC/D defect combined with haemodynamically highly relevant VSD.

Journal of inherited metabolic disease, 2002
An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.
M, Tomaske, A, Bosk, M K, Heinemann, L, Sieverding, E R, Baumgartner, B, Fowler, F K, Trefz   +6 more
openaire   +1 more source