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 +8 more
doaj +6 more sources
Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles [PDF]
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 +6 more sources
Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension [PDF]
Orphanet Journal of Rare DiseasesJulien Grynblat +2 more
doaj +5 more sources
Dementia, diarrhea, desquamating shellac-like dermatitis revealing late-onset cobalamin C deficiency [PDF]
JAAD Case Reports, 2018 Robert Christopher Gilson, BS +3 more
doaj +6 more sources
Cobalamin C Deficiency-Associated Pigmentary Retinopathy. [PDF]
JAMA Ophthalmol, 2015 A12-year-oldgirlhadpoorvision inbotheyessincechildhood.Visual acuitywas counting fingerswith associatednystagmus. Theelectroretinogramwasnonrecordable.Hermedicalhistorywasnotableforfailuretothrive,methylmalonicaciduria,andhomocystinuria.Genetictesting revealedmutations in theMMACHC gene.
Garcia-Gonzalez JM +2 more
europepmc +5 more sources
Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review [PDF]
Metabolism OpenBackground: 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 +5 more
doaj +3 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 +8 more
doaj +4 more sources
Outcomes of patients with cobalamin C deficiency: A single center experience. [PDF]
JIMD Rep, 2021 AbstractBiallelic variants in MMACHC results in the combined methylmalonic aciduria and homocystinuria, called cobalamin (cbl) C (cblC) deficiency. We report 26 patients with cblC deficiency with their phenotypes, genotypes, biochemical parameters, and treatment outcomes, who were diagnosed and treated at our center.
Bourque DK +9 more
europepmc +5 more sources
Hemiconvulsion-Hemiplegia-Epilepsy in a girl with cobalamin C deficiency. [PDF]
Epileptic Disord, 2018 ABSTRACTHemiconvulsion‐Hemiplegia‐Epilepsy initially involves an infantile presentation of febrile focal motor status epilepticus, with subsequent hemiplegia of the initially affected side. Months to years later, affected children go on to develop a chronic epilepsy with recurrent focal seizures which are often refractory to treatment.
Myers KA, Dudley RW, Srour M.
europepmc +6 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 ReportsIntroductionCobalamin 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 +7 more
doaj +4 more sources