Disease Info Card

Methylmalonic Acidemia

Information about Methylmalonic Acidemia: characteristics, related genes and pathways, plus antibodies you can use for research. This page is being enriched constantly, if you see some information you would like this page to include please send your suggestions to us.

Overview of Methylmalonic Acidemia

Most recent studies have shown that Methylmalonic Acidemia shares some biological mechanisms with acidemia, acidosis, anemia, anemia-megaloblastic, developmental-delay-(disorder), homocystinuria, hyperammonemia, inborn-errors-of-metabolism, ketosis, kidney-failure, maple-syrup-urine-disease, mastitis-metritis-agalactia-syndrome, metabolic-acidosis, metabolic-diseases, muscle-hypotonia, phenylketonurias, propionic-acidemia, vitamin-b-12-deficiency, vomiting.

Among the many pathways, these few ones have gauged particular interests from scientists studying Methylmalonic Acidemia, and have been seen in publications frequently: Cell Death, Cell Proliferation, Cobalamin Transport, Cognition, Excretion, Fatty Acid Oxidation, Glomerular Filtration, Gluconeogenesis, Localization, Mitochondrial Transport, Myelination, Oxidative Phosphorylation, Pathogenesis, Pigmentation, Receptor-mediated Endocytosis, Regeneration, Translation, Transport, Tricarboxylic Acid Cycle, Urea Cycle

Quite a number of genes have been found to play important roles in Methylmalonic Acidemia, such as AMY2A, BLOC1S6, CBL, CBLB, CBLC, EPB42, MMAA, MMAB, MMACHC, MMADHC, MMD, MTR, MTRR, OTC, PIK3CA, PRH1, SLC7A5P2. See what Boster has to offer for the research of these genes by clicking the gene name links below and view a more detailed info card/product listing for that gene.

In a later update, we will include information such as current drugs and therapy solutions as well as on-going and past clinical trials for this disease. Plesae stay updated.

Methylmalonic Acidemia Related Genes

click to see detail information for each gene

AMY2A BLOC1S6 CBL
CBLB CBLC EPB42
MMAA MMAB MMACHC
MMADHC MMD MTR
MTRR OTC PIK3CA
PRH1 SLC7A5P2