Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency (MMAM)

Alias:

Methylmalonic Aciduria, Mut(0) Type

Methylmalonic Acidemia Due to Methylmalonyl-Coa Mutase Deficiency

Methylmalonic Aciduria, Mut Type

Aciduria, Methylmalonic, Due to Methylmalonyl-Coa Mutase Deficiency

Methylmalonicaciduria Due to Methylmalonyl-Coa Mutase Deficiency

Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0

Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut0

Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-

Vitamin B12-Unresponsive Methylmalonic Aciduria Type Mut-

Vitamin B12-Unresponsive Methylmalonic Aciduria

Complete Deficiency of Methylmalonyl-Coa Mutase

Partial Deficiency of Methylmalonyl-Coa Mutase

Methylmalonicaciduria Vitamin B12 Unresponsive

Methylmalonyl-Coenzyme a Mutase Deficiency

Methylmalonic Aciduria Mut Type

Methylmalonic Aciduria Type Mut

Mma Due to Mcm Deficiency

Mmam

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency, also known as methylmalonic aciduria, mut(0) type, is related to homocystinuria and methylmalonic acidemia. An important gene associated with Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency is MMUT (Methylmalonyl-CoA Mutase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include globus pallidus and kidney, and related phenotypes are failure to thrive and nausea and vomiting

Related ID：

MALACARDS：MTH076

OMIM：251000

MESH：C565390