PedAM
Pediatric Disease Annotations & Medicines
| Disease | hyperhomocysteinemia |
| Phenotype | C0268583|methylmalonic acidemia |
| 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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