Methylmalonic Aciduria, Cbla Type (MMAA)

Alias:

Methylmalonic Acidemia Cbla Type

Methylmalonic Aciduria Cbla Type

Mmaa

Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Type

Methylmalonic Aciduria, Vitamin B12-Responsive Due to a Defect in Synthesis of Adenosylcobalamin Cb1a Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type

Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl a

Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl a

Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla

Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla

Vitamin B12 Responsive Methylmalonic Acidemia, Cbl a

Aciduria, Methylmalonic, Cbla Type

Methylmalonic Aciduria Cbla Type

Methylmalonic Acidemia, Cbla Type

Methylmalonic Aciduria Type Cbla

Methylmalonic Aciduria Type a

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Methylmalonic Aciduria, Cbla Type, also known as methylmalonic acidemia cbla type, is related to methylmalonic aciduria due to methylmalonyl-coa mutase deficiency and transcobalamin ii deficiency, and has symptoms including lethargy, seizures and tremor. An important gene associated with Methylmalonic Aciduria, Cbla Type is MMAA (Metabolism Of Cobalamin Associated A), and among its related pathways/superpathways are Infectious disease and Metabolism. Affiliated tissues include bone marrow and bone, and related phenotypes are hypotonia and hyperammonemia

Related ID：

MALACARDS：MTH077

OMIM：251100

MESH：D008661