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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease acidemia, methylmalonic
Symptom C0042847|cobalamin deficiency
Sentences 2
PubMedID- 22545211 A recent study reported ≈75% of a selected urban population from western india had metabolic evidence (hyperhomocysteinemia and methylmalonic acidemia) consistent with cobalamin deficiency that can only partly be explained by a vegetarian diet .
PubMedID- 25585586 methylmalonic acidemia with homocystinuria, cobalamin deficiency type c (cblc) (mmachc) is the most common inborn error of cobalamin metabolism.

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