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 +1 more source
Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease
iScience, 2022 Summary: Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization of vitamin B12 (B12) lead to hematological and neurological manifestations.
Anna J. Esser +6 more
doaj +1 more source
Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method. [PDF]
J Inherit Metab DisABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Stolwijk NN +6 more
europepmc +2 more sources
Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report
BMC Pediatrics, 2020 Background Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B12 metabolism with a wide spectrum of clinical manifestations.
Ling-yi Wen, Ying-kun Guo, Xiao-qing Shi
doaj +1 more source
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 +5 more
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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 +1 more source
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 +5 more
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CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency [PDF]
Pediatric Nephrology, 2010 Sirs, In a recent edition of Pediatric Nephrology, we reported the case of a child with a slowly progressive on-going atypical hemolytic uremic syndrome (aHUS) associated with a mutation in the gene encoding membrane cofactor protein (CD46) [1]. Mutation screening of CFH, CFI, C3 and CFB showed no abnormalities.
Bouts, A.H. +3 more
openaire +5 more sources
Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency [PDF]
Journal of Inherited Metabolic Disease, 2016 AbstractBackgroundRemethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.ObjectiveTo summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and ...
Huemer, Martina +17 more
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Oy-sters: Late-Onset Cobalamin C Deficiency Presenting With Subacute Combined Degeneration
, 2023 Cobalamin C (CblC) deficiency is a rare inborn error in cobalamin (vitamin B12) metabolism which results in impaired intracellular processing of dietary vitamin B12.
Christopher Goyne +3 more
core +1 more source