Hypervalinemia and Hyperleucine-Isoleucinemia (HVLI)

Alias:
Hypervalinemia or Hyperleucine-Isoleucinemia
Branched-Chain Aminotransferase Deficiency
Hvli
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypervalinemia and Hyperleucine-Isoleucinemia, also known as hypervalinemia or hyperleucine-isoleucinemia, is related to hyperleucine-isoleucinemia and maple syrup urine disease. An important gene associated with Hypervalinemia and Hyperleucine-Isoleucinemia is BCAT2 (Branched Chain Amino Acid Transaminase 2), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Glucose / Energy Metabolism. Affiliated tissues include brain, and related phenotypes are headache and brisk reflexes
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
14
1

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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