Methylmalonic Acidemia

About the Disease
Methylmalonic Aciduria, Cblb Type, also known as methylmalonic aciduria cblb type, is related to methylmalonic aciduria and homocystinuria, cblc type and isolated methylmalonic acidemia, and has symptoms including lethargy, vomiting and respiratory distress. An important gene associated with Methylmalonic Aciduria, Cblb Type is MMAB (Metabolism Of Cobalamin Associated B), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Mecobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include prostate, heart and breast, and related phenotypes are failure to thrive and global developmental delay

Common Targets
MMUT | ATRX | ALDH6A1 | ABCD4 | ACSF3 | MMADHC | MMACHC | MMAB | PANK3 | SUCLG2 | SUCLG1 | ABCA4 | MMAA | USH2A | MLYCD | MTR | HCFC1 | Pantothenate Kinase (nonspecified subtype)

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