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

Abstract 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. While there is no cure, combined treatment with intramuscular hydroxycobalamin a...

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Bibliographic Details
Main Authors: Ashley Wilson, Vivian Cruz, Jonathan B. Kronick
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:JIMD Reports
Subjects:
Online Access:https://doi.org/10.1002/jmd2.12145

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