Intermediate Maple Syrup Urine Disease

Alias:
Intermediate Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Intermediate Bckd Deficiency
Intermediate Msud
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intermediate Maple Syrup Urine Disease, also known as intermediate branched-chain alpha-ketoacid dehydrogenase deficiency, is related to maple syrup urine disease and autism. An important gene associated with Intermediate Maple Syrup Urine Disease is BCKDHA (Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include brain.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
4
14
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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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Mutations
No data available

Related Drugs

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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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