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Definition

A metabolic disorder characterized by increased blood C3-acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin.

Acronym

MMATC

Synonyms

Methylmalonic acidemia TCblR type
Methylmalonic aciduria due to transcobalamin receptor defect
Methylmalonic aciduria type TCblR