Results 1 to 10 of about 19,992,265 (173)

Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review [PDF]

Metabolism Open
Background: Holocarboxylase Synthetase Deficiency (HCSD) is an uncommon autosomal recessive genetic disorder that manifests with symptoms such as metabolic acidosis, lethargy, hypotonia, seizures, and persistent rashes, typically emerging during infancy.
Ye Ren, Hongxing Dang, Yueqiang Fu, Chengjun Liu, Jing Li, Jinhua Cai   +5 more
doaj   +3 more sources

Euglycemic Diabetic Ketoacidosis Related to SGLT2 Inhibitor Use in a Patient With Cobalamin C Deficiency and Diabetes [PDF]

Annals of Internal Medicine: Clinical Cases, 2023
A 24-year-old woman with cobalamin C deficiency (CblCD), autoimmune thyroiditis, and recently diagnosed diabetes mellitus presented with weight loss, emesis, and abdominal pain.
Camilia Kamoun, Jaclyn Tamaroff, Sanmati Cuddapah, Marc Yudkoff, Shana McCormack, Jessica I. Gold   +5 more
doaj   +2 more sources

Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency [PDF]

Frontiers in Pediatrics, 2023
ObjectiveCblC deficiency, the most common cobalamin metabolic abnormality, is caused by pathogenic variants in the MMACHC gene. The renal complications of this disease have been described only in a small number of cases.
Xiaoyu Liu, Huijie Xiao, Yong Yao, Suxia Wang, Hongwen Zhang, Xuhui Zhong, Yanling Yang, Jie Ding, Fang Wang   +8 more
doaj   +2 more sources

Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report [PDF]

Frontiers in Neurology, 2023
BackgroundLate-onset cobalamin C (cblC) deficiency is associated with a wide range of neurological and psychiatric symptoms, hematological manifestations, anorexia, renal failure, ocular abnormalities, dermatitis, and pancreatitis.
Miao Sun, Yingjie Dai
doaj   +2 more sources

Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult [PDF]

BMC Nephrology, 2020
Background Thrombotic microangiopathy (TMA) syndromes are characterized by the association of hemolytic anemia, thrombocytopenia and organ injury due to arteriolar and capillary thrombosis.
C. Philipponnet, J. Desenclos, M. Brailova, J. Aniort, J. L. Kemeny, C. Deville, V. Fremeaux-Bacchi, B. Souweine, A. E. Heng   +8 more
doaj   +2 more sources

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency [PDF]

JIMD Reports, 2020
Cobalamin C (cblC) deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in MMACHC and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a variable age of ...
Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang   +9 more
doaj   +2 more sources

Severe heart failure in a unique case of cobalamin-C-deficiency resolved with LVAD implantation and subsequent heart transplantation [PDF]

Molecular Genetics and Metabolism Reports
IntroductionCobalamin c deficiency (cblC), an inborn error of vitamin B12 metabolism, is caused by mutations of the MMACHC gene. It usually leads to a multisystemic disease; 50% of all patients with cblC have various structural heart defects.
Clara Hjalmarsson, Charlotte Backelin, Anders Thoren, Niklas Bergh, Jennifer L. Sloan, Irini Manoli, Charles P. Venditti, Göran Dellgren   +7 more
doaj   +2 more sources

Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles [PDF]

Metabolites
Methylmalonic 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, Giulio Catesini, Elisa Sacchetti, Cristiano Rizzo, Carlo Dionisi-Vici   +4 more
doaj   +2 more sources

Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia [PDF]

BMC Nephrology
Background The etiology of nephrotic syndrome can vary, with underlying metabolic diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive inborn error of metabolism caused by mutations in the MMACHC gene, resulting in ...
Halil Tuna Akar, Harun Yıldız, Zeynelabidin Öztürk, Deniz Karakaya, Abdullah Sezer, Asburçe Olgaç   +5 more
doaj   +2 more sources

Physiological, molecular, and histological evaluation of the effects of cobalamin on cardiac function in castrated rabbits [PDF]

Open Veterinary Journal
Background: Testosterone deficiency is associated with adverse cardiac remodeling, oxidative stress, and inflammation. Aim: To investigate the physiological, biochemical, and histological effects of cobalamin (vitamin B12) supplementation on cardiac ...
Mohammed Hayder Asker, Wassan Mhammed Husain, Hadeel Kamil Khaleel, Mustafa Riyadh Abdullah   +3 more
doaj   +2 more sources