Gaba-Transaminase Deficiency (GABATD)

Alias:
Gamma-Aminobutyric Acid Transaminase Deficiency
Gamma Aminobutyric Acid Transaminase Deficiency
Gaba Transaminase Deficiency
4 Alpha Aminobutyrate Transaminase Deficiency
Gamma Aminobutyrate Transaminase Deficiency
Gamma-Aminobutyrate Transaminase Deficiency
Gaba Transferase Deficiency
Gaba-T Deficiency
Abat Deficiency
Gabatd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gaba-Transaminase Deficiency, also known as gamma-aminobutyric acid transaminase deficiency, is related to gaba aminotransferase deficiency and hypotonia, and has symptoms including lethargy An important gene associated with Gaba-Transaminase Deficiency is ABAT (4-Aminobutyrate Aminotransferase), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neurotransmitter release cycle. Affiliated tissues include brain, and related phenotypes are seizure and hyperreflexia
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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
8
13

Medical Symptom

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Description
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Gene & Mutation

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MGI
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References Literature

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