Results 41 to 50 of about 452,408 (160)

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations [PDF]

, 2021
International audienceBackground: The role of epigenetics in inborn errors of metabolism (IEMs) is poorly investigated. Epigenetic changes can contribute to clinical heterogeneity of affected patients but could also be underestimated determining factors ...
Menni, Francesca, Oussalah, Abderrahim, Furlan, Francesca, Gozzini, Alessia, Morrone, Amelia, Cavicchi, Catia, Motta, Serena, Morange, Pierre-Emmanuel, Cavicchi, C., La Marca, G., Guéant, Jean-Louis, La Marca, Giancarlo, Tregouet, David, Ferri, Lorenzo, Daniotti, Marta, Chery, Céline, Morrone, A., Tummolo, Albina, Meli, Concetta, Guerrini, Renzo, Parenti, Giancarlo, Falliano, Silvia, Malvagia, Sabrina, Gasperini, Serena, Rigoldi, Miriam, Guerrini, R., Donati, Maria, Alice, Serena Gasperini, Alessia Gozzini, Abderrahim Oussalah, Jean-Louis Guéant, Miriam Rigoldi, Albina Tummolo, Concetta Meli, Giancarlo la Marca, Giancarlo Parenti, Marta Daniotti, Lorenzo Ferri, David Tregouet, Francesca Furlan, Serena Motta, Amelia Morrone, Silvia Falliano, Sabrina Malvagia, Maria Alice Donati, Céline Chery, Donati, Maria,, Renzo Guerrini, Pierre-Emmanuel Morange, Catia Cavicchi, Francesca Menni   +50 more
core   +1 more source

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

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   +1 more source

Genetic mapping of cobalamin C deficiency linkage to chromosome 1p32-34 [PDF]

, 2003
Cobalamin C deficiency (cblC) is an autosomal recessive disease (OMIM 277400) with onset in infancy. It is the most common intracellular cobalamin processing disorder, leading to both methylmalonic aciduria and homocystinuria.
Atkinson, Janet Lynn
core   +1 more source

CblC Deficiency is the Cause of Persistent Proteinuria in a Young Female Ten Years After the Diagnosis of Atypical Nephropathy: A Case Report

, 2023
Abstract Background: Cobalamin C (cblC) deficiency is the most common inborn error of cobalamin metabolism. It is caused by pathogenic variants in the MMACHC gene with varying clinical features. However, proteinuria as the primary manifestation is exceedingly rare and renal biopsy demonstrating primary glomerular pathology also is infrequent ...
Min Yang, Ying Xin, Yue Du
openaire   +1 more source

Hereditary defect of cobalamin metabolism with adolescence onset resembling multiple sclerosis: 41-year follow up in two cases

Therapeutic Advances in Neurological Disorders, 2019
The cblC defect is the most common inborn error of cobalamin (Cbl) metabolism. Clinical severity and presentation of the cblC defect ranges from death to mild disability. Only 71 cases of late-onset cblC defect have been described in the literature.
Jeremias Motte, Janina Kneiphof, Katrin Straßburger-Krogias, Kalliopi Pitarokoili, Anna Lena Fisse, Ludwig Kappos, Ralf Gold   +6 more
doaj   +1 more source

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections

Orphanet Journal of Rare Diseases, 2021
Background Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominently the nervous system and the bone ...
Amelie S. Lotz-Havla, Katharina J. Weiß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele, Esther M. Maier   +6 more
doaj   +1 more source

Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report

BMC Nephrology
Background Combined methylmalonic acidemia (MMA) and hyperhomocysteinemia, cobalamin C (cblC) type, also named cblC deficiency is a rare autosomal recessive genetic metabolic disease.
Qiufa Hao, Bei Jiang, Yuying Zhao, Zhao Hu   +3 more
doaj   +1 more source

Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder

JIMD Reports, 2020
Combined methylmalonic aciduria and homocystinuria (cobalamin C deficiency, cblC) is a well‐described disorder of vitamin B12 metabolism caused by mutations in the MMACHC gene with multisystemic manifestations.
Ashley Wilson, Vivian Cruz, Jonathan B. Kronick   +2 more
doaj   +1 more source

Characterization of the mouse Cblc/Cbl3 gene

, 2001
The mouse Cblc/Cbl3 gene was cloned and characterized. It comprises 12 exons and encodes a putative protein of 496 amino acid residues which shares an overall 67% identity with its human ortholog; it also shares 70% of amino acid identity with mouse CBL ...
Fiore, Frédéric, Ollendorff, Vincent, Birnbaum, Daniel   +2 more
core   +1 more source

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

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   +1 more source