High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

Abstract Cobalamin C (cblC) deficiency is the most common inborn error of intracellular cobalamin metabolism caused by pathogenic variant(s) in MMACHC and manifests with methylmalonic acidemia, hyperhomocysteinemia, and hypomethioninemia with a variable age of presentation. Individuals with late‐ons...

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Bibliographic Details
Main Authors: Tomoyasu Higashimoto, Alexander Y. Kim, Jessica T. Ogawa, Jennifer L. Sloan, Mohammed A. Almuqbil, Julia M. Carlson, Irini Manoli, Charles P. Venditti, Meral Gunay‐Aygun, Tao Wang
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:JIMD Reports
Subjects:
cblC
cobalamin C
combined methylmalonic acidemia and homocystinuria
Hydroxocobalamin
intracellular cobalamin metabolism
MMACHC
Online Access:https://doi.org/10.1002/jmd2.12087

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