Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type

Methylmalonic aciduria and homocystinuria, cobalamin C type (cblC), constitute the most common inborn error of intracellular cobalamin metabolism. Here, we report the case of a 6-month-old child, presenting severe subacute neurological decline associated with failure to thrive. Biochemical tests ind...

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Bibliographic Details

Published in:	Heliyon
Main Authors:	Etienne Mondesert, Bastien Baud, Agathe Roubertie, Jean-François Benoist, Pierre-Edouard Grillet, Jean-Paul Cristol, Marie Céline Francois-Heude, Manuel Schiff, Stéphanie Badiou
Format:	Article
Language:	English
Published:	Elsevier 2025-02-01
Subjects:	Methylmalonic aciduria and homocystinuria Cobalamin C type Inborn error of metabolism Homocysteine Methylmalonic acid Vitamin B12
Online Access:	http://www.sciencedirect.com/science/article/pii/S2405844025004669