Inborn errors of metabolism associated with 3-methylglutaconic aciduria
Abstract
A growing number of inborn errors of metabolism (IEM) associated with compromised mitochondrial energy metabolism manifest an unusual phenotypic feature: 3-methylglutaconic (3MGC) aciduria. Two major categories of 3MGC aciduria, primary and secondary, have been described. In primary 3MGC aciduria, IEMs in 3MGC CoA hydratase (AUH) or HMG CoA lyase block leucine catabolism, resulting in a buildup of pathway intermediates, including 3MGC CoA....
Paper Details
Title
Inborn errors of metabolism associated with 3-methylglutaconic aciduria
Published Date
Nov 1, 2021
Journal
Volume
522
Pages
96 - 104
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