Mitochondrial Complex I Deficiency, Nuclear Type 20 (MC1DN20)

Alias:
Acyl-Coa Dehydrogenase 9 Deficiency
Acad9 Deficiency
Mitochondrial Complex I Deficiency Due to Acad9 Deficiency
Mc1dn20
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency of
Nuclear Type Mitochondrial Complex I Deficiency 20
Mitochondrial Complex 1 Deficiency Due to Acad9 Deficiency
Deficiency of Acyl-Coa Dehydrogenase Family Member 9
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Complex I Deficiency, Nuclear Type 20, also known as acyl-coa dehydrogenase 9 deficiency, is related to leigh syndrome and hypoglycemia, and has symptoms including muscle weakness An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 20 is ACAD9 (Acyl-CoA Dehydrogenase Family Member 9), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drug Pyruvate has been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are decreased activity of mitochondrial complex i and failure to thrive
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
19
82
11

Medical Symptom

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Description
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Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
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Publications
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References Literature

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