Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists

Abstract Background Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomocysteinemia, methylmalonic aciduria and low plasma methionine. Despite b...

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Bibliographic Details
Main Authors: Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta, Marco Spada
Format: Article
Language:English
Published: BMC 2022-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Methylmalonic aciduria and homocystinuria
Cobalamin C deficiency
CblC
Adult-onset
Homocysteine
Neuropsychiatric presentation
Online Access:https://doi.org/10.1186/s13023-022-02179-y

Internet

https://doi.org/10.1186/s13023-022-02179-y

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