Multiple Acyl-Coa Dehydrogenase Deficiency (MADD)

Multiple Acyl-Coa Dehydrogenase Deficiency(来自ICD-11)
别称:
Madd
Glutaric Acidemia Type 2
Glutaric Acidemia Iia
Glutaric Acidemia Iib
Ethylmalonic-Adipicaciduria
Glutaric Aciduria Type 2
Glutaric Acidemia Iic
Mad Deficiency
Ga Ii
Ema
Multiple Acyl Coenzyme a Dehydrogenase Deficiency
Electron Transfer Flavoprotein Deficiency
Glutaric Acidemia Ii
Glutaric Aciduria Ii
Etfdh Deficiency
Etfa Deficiency
Etfb Deficiency
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency
Electron Transfer Flavoprotein Dehydrogenase Deficiency
Electron Transfer Flavoprotein, Deficiency of
Acyl-Coa Dehydrogenation Deficiency, Multiple
Multiple Fad Dehydrogenase Deficiency
Ethylmalonic Adipic Aciduria
Glutaricaciduria, Type Iia
Glutaric Acidemia Type Ii
Glutaric Acidemia, Type 2
Glutaric Aciduria, Type 2
Glutaric Acidemia Type 2c
Glutaric Acidemia Type 2a
Glutaric Aciduria Iia
Glutaric Aciduria Iib
Glutaric Aciduria Iic
Glutaric Aciduria 2a
Glutaricaciduria Iia
Glutaric Aciduria 2b
Glutaricaciduria Iib
Glutaric Aciduria 2c
Glutaricaciduria Iic
Glutaricaciduria Ii
Glutaric Aciduria 2
Gaiia
Gaiib
Gaiic
Ga2a
Ga2b
Ga2c
Ga2
Mad
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Multiple Acyl-Coa Dehydrogenase Deficiency, also known as madd, is related to multiple acyl-coa dehydrogenase deficiency, severe neonatal type and multiple acyl-coa dehydrogenase deficiency, mild type. An important gene associated with Multiple Acyl-Coa Dehydrogenase Deficiency is ETFDH (Electron Transfer Flavoprotein Dehydrogenase), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related phenotypes are hypotonia and hypoglycemia
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参考文献
MALACARDS
AR
All ages
1-9/1000000
46
216
155

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