Cargando…
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male
BACKGROUND: Methylmalonic acidaemia with homocystinuria type C (cblC defect) is an inherited error of cobalamin metabolism. Cobalamin deficient processing results in high levels of methylmalonic acid and homocysteine. The latter is considered to be a risk factor for multiple sclerosis (MS). We repor...
Autores principales: | Pollini, Luca, Tolve, Manuela, Nardecchia, Francesca, Galosi, Serena, Carducci, Claudia, di Carlo, Emanuele, Carducci, Carla, Leuzzi, Vincenzo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026611/ https://www.ncbi.nlm.nih.gov/pubmed/32099815 http://dx.doi.org/10.1016/j.ymgmr.2019.100560 |
Ejemplares similares
-
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes
por: Pollini, Luca, et al.
Publicado: (2020) -
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
por: Cavicchi, Catia, et al.
Publicado: (2021) -
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism
por: Mastrangelo, Mario, et al.
Publicado: (2023) -
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
por: Guéant, Jean-Louis, et al.
Publicado: (2018) -
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature
por: Nardecchia, Francesca, et al.
Publicado: (2022)