Methylmalonic Acidemia (MMA)

Methylmalonic Acidemia(来自ICD-11)
别称:
Methylmalonic Aciduria
Isolated Methylmalonic Acidemia
Mma
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Methylmalonic Acidemia, also known as methylmalonic aciduria, is related to methylmalonic aciduria due to methylmalonyl-coa mutase deficiency and methylmalonic aciduria and homocystinuria, cbld type. An important gene associated with Methylmalonic Acidemia is MMUT (Methylmalonyl-CoA Mutase), and among its related pathways/superpathways are Infectious disease and Metabolism. The drugs Metronidazole and Biotin have been mentioned in the context of this disorder. Affiliated tissues include kidney and pancreas, and related phenotypes are Decreased shRNA abundance and homeostasis/metabolism
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相关ID:
MESH:C537358

基础信息

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参考文献
MALACARDS
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