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Description

5.6.7.b

E.HendrickE

M., & Coco, M

One study outlined the great risk of carnitine deficiency: carnitine insufficiency and the prevalence of carnitine deficiency were estimated at 73.5%, 82.3% and 8.8% among dialyzed patients, respectively [109]

They are isomers (or mirror images) of each other

These variants were assumed to have the pathogenicity because these were two of the five most frequent variants in Japanese populations with isolated methylmalonic acidemia and presumed to result in the loss of function of MUT [6]