Organic Acidemia

Alias:
Organic Aciduria
Disorder of Organic Acid Metabolism
Organic Acid Metabolism Disorder
Aciduria Organic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Organic Acidemia, also known as organic aciduria, is related to methylmalonic aciduria due to methylmalonyl-coa mutase deficiency and barth syndrome. An important gene associated with Organic Acidemia is BTD (Biotinidase), and among its related pathways/superpathways are Infectious disease and Metabolism. The drugs Carbamide peroxide and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include brain and skeletal muscle, and related phenotypes are homeostasis/metabolism and growth/size/body region
Related ID:
ICD11:1921636230

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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37
188
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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