Results 21 to 30 of about 1,993 (190)

Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene

Pediatrics and Neonatology, 2011
Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl)C type (cblC disease), the most common inborn error of vitamin B12, is a rare disorder of intracellular cbl metabolism because of mutations in the MMACHC gene located in chromosome region
Jenn-Tzong Chang, Ying-Yao Chen, Tze-Tze Liu, Mei-Ying Liu, Pao-Chin Chiu   +4 more
doaj   +2 more sources

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

Italian Journal of Pediatrics, 2018
Background Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms.
Luciano De Simone, Laura Capirchio, Rosa Maria Roperto, Paola Romagnani, Michele Sacchini, Maria Alice Donati, Maurizio de Martino   +6 more
doaj   +2 more sources

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

Journal of Inherited Metabolic Disease, 2007
Contains fulltext : 52286.pdf (Publisher’s version ) (Open Access)Cobalamin is an essential cofactor for two mammalian enzymes: methionine synthase and methylmalonyl-CoA mutase.
Eva Morava, Leo A. J. Kluijtmans, Henk J. Blom, Kluijtmans, L.A.J., Dijken, P.J. van, Sandra G. Heil, Heil, S.G., Berg, G.B. van de, Morava, E., Blom, H.J., P. J. van Dijken, Hogeveen, M., Gerard B. van de Berg, Marije Hogeveen   +13 more
core   +5 more sources

Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.

Pediatric Neurology, 2010
Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation.
Tavazzi, Barbara
core   +4 more sources

The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans

Journal of Inherited Metabolic Disease, 2015
Methylmalonic acidemia with homocystinuria, cobalamin deficiency type C (cblC) (MMACHC) is the most common inborn error of cobalamin metabolism. Despite a multidrug treatment, the long-term follow-up of early-onset patients is often unsatisfactory ...
Pastore, A., Martinelli, D., Ingenito, L., Margherita Ruoppolo, Di Giovamberardino, G., Dionisi Vici, C., Esther Imperlini, IMPERLINI, Esther, CATERINO, Marianna, Diego Martinelli, Marianna Caterino, Sara Boenzi, RUOPPOLO, MARGHERITA, Gianna Di Giovamberardino, Emanuela Scolamiero, Anna Pastore, Scolamiero, E., Laura Ingenito, Strozziero, M. G., Ceravolo, F., Boenzi, S., Maria Grazia Strozziero, Ferdinando Ceravolo, Carlo Dionisi‐Vici   +23 more
core   +4 more sources

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance. [PDF]

Ann Clin Transl Neurol
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Zhao W, Zhang Y, Zheng H.
europepmc   +2 more sources

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12 [PDF]

, 2022
Background: epi-cblC is a recently discovered inherited disorder of intracellular vitamin B12 metabolism associating hematological, neurological, and cardiometabolic outcomes. It is produced by an epimutation at the promoter common to CCDC163P and MMACHC,
Siblini, Youssef, Froese, D Sean; https://orcid.org/, Oussalah, Abderrahim, Hergalant, Sébastien, Baumgartner, Matthias R; https://orcid.org/, et al   +5 more
core   +3 more sources

Analysis of hydroxocobalamin dosage in patients with CblC deficiency. [PDF]

Orphanet J Rare Dis
Abstract Objective cblC deficiency is the most common organic acidemia in China. Hydroxocobalamin (OHCbl) is the main important therapeutic approach, while no approved protocols on its dosage during stable periods exist.
Ding S, Deng Y, Ding Y, Hao L, Qiu W, Zhang H, Liang L, Chen T, Zhan X, Xu P, Yang C, Zou H, Chen Y, Wu S, Wang Y, Yang M, Gu X, Jiao X, Han L.   +18 more
europepmc   +3 more sources

The human B12 trafficking protein CblC processes nitrocobalamin [PDF]

Journal of Biological Chemistry, 2020
In humans, cobalamin or vitamin B12 is delivered to two target enzymes via a complex intracellular trafficking pathway comprising transporters and chaperones. CblC (or MMACHC) is a processing chaperone that catalyzes an early step in this trafficking pathway.
Romila Mascarenhas, Zhu Li, Carmen Gherasim, Markus Ruetz, Ruma Banerjee   +4 more
openaire   +2 more sources

Follow-up study of neuropsychological scores of infant patients with cobalamin C defects and influencing factors of cerebral magnetic resonance imaging characteristics

Frontiers in Neuroscience, 2022
PurposeThe purpose of this study was to investigate whether baseline cerebral magnetic resonance imaging (MRI) characteristics could predict therapeutic responsiveness in patients with cobalamin C (cblC) defects.Materials and methodsThe cerebral MRI ...
Tao Chen, Chaofan Sui, Suna Lin, Bin Guo, Yuanyuan Wang, Linfeng Yang   +5 more
doaj   +1 more source