Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type

Alias:
Glutaric Aciduria Type 2, Severe Neonatal Type
Mad Deficiency, Severe Neonatal Type
Madd, Severe Neonatal Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type, also known as glutaric aciduria type 2, severe neonatal type, is related to acyl-coa dehydrogenase, short-chain, deficiency of and carnitine-acylcarnitine translocase deficiency. An important gene associated with Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type is MADD (MAP Kinase Activating Death Domain), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Related phenotype is Increased shRNA abundance (Z-score > 2).
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Newborn
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5
16
1

Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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