Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Betaine is an “alternate” methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney.
Apolline Imbard +14 more
doaj +5 more sources
Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient [PDF]
Frontiers in Neurology, 2023 IntroductionCobalamin C (cblC) deficiency is a rare hereditary disorder affecting intracellular cobalamin metabolism, primarily caused by mutations in MMACHC.
Qihua Chen +3 more
doaj +2 more sources
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency [PDF]
Genetics in Medicine, 2016 PURPOSE: Cobalamin C (cblC) deficiency impairs the biosynthesis of 5'-deoxyadenosyl-adenosyl- and methyl-cobalamin, resulting in methylmalonic acidemia combined with hyperhomocysteinemia and hypomethioninemia.
Myles, J.G. +7 more
core +5 more sources
MetabolitesMethylmalonic acidemia (MMA), propionic acidemia (PA), and cobalamin C deficiency (cblC) share a defect in propionic acid metabolism. In addition, cblC is also involved in the process of homocysteine remethylation.
Anna Sidorina +4 more
doaj +2 more sources
Rare cause of coronary artery ectasia in children: A case report of methylmalonic acidemia with hyperhomocysteinemia [PDF]
Frontiers in Pediatrics, 2022 BackgroundMethylmalonic acidemia (MMA) with hyperhomocysteinemia is caused by cobalamin deficiency, mainly due to disturbance of cobalamin C (cblC) metabolism. Its clinical manifestations involve many organs.
Tu Juan +3 more
doaj +2 more sources
Spectrum of clinical manifestation of methylmalonic acidemia and homocystinuria in a family of six siblings: novel combination of transcobalamin receptor defect (CD320) and cblC deficiency (MMACHC) [PDF]
Egyptian Journal of Medical Human Genetics, 2021 Background Methylmalonic acidemia with homocystinuria is caused by a rare inborn error of vitamin B12 (cobalamin) metabolism. There are four complementation classes of cobalamin defects cblC, cblD, cblF, and cblJ that are responsible for combined ...
Nadia Waheed, Zafar Fayyaz, Ahmad Imran
doaj +2 more sources
FEBS Open Bio, 2014 In this study, we showed that cyanocobalamin dodecylamine, a ribose 5′-carbamate derivative of cyanocobalamin, was absorbed and accumulated to significant levels by Caenorhabditis elegans and was not further metabolized.
Tomohiro Bito +4 more
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A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance. [PDF]
Ann Clin Transl NeurolABSTRACT 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
Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease. [PDF]
JIMD RepABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive ...
Selvanathan A +7 more
europepmc +2 more sources
Easily Misdiagnosed cblC Deficiency in Adolescents: the Clinical and Metabolic Studies [PDF]
, 2022 Abstract Purpose: Adolescents are easily attacked by potential inherited metabolic disorders. cblC deficiency is the most common type of methylmalonic aciduria in China. The late-onset patients present with varied non-specific symptoms and usually being misdiagnosed.
Zhehui Chen +17 more
openaire +1 more source