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

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
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
Series:Heliyon
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
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