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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease acidemia, methylmalonic
Comorbidity C0598608|hyperhomocysteinemia
Sentences 1
PubMedID- 26270766 Purpose: cobalamin c (cblc) deficiency impairs the biosynthesis of 5'-deoxyadenosyl-adenosyl- and methyl-cobalamin, resulting in methylmalonic acidemia combined with hyperhomocysteinemia and hypomethioninemia.

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