Gaba Aminotransferase Deficiency

Gaba Aminotransferase Deficiency(来自ICD-11)
别称:
Gamma-Aminobutyric Acid Transaminase Deficiency
Gaba Transaminase Deficiency
Gamma-Amino Butyric Acid Transaminase Deficiency
Gamma Aminobutyric Acid Transaminase Deficiency
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Basic Information
Medical Symptom
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References Literature
Gaba Aminotransferase Deficiency, also known as gamma-aminobutyric acid transaminase deficiency, is related to succinic semialdehyde dehydrogenase deficiency and gaba-transaminase deficiency, and has symptoms including lethargy An important gene associated with Gaba Aminotransferase Deficiency is ABAT (4-Aminobutyrate Aminotransferase), and among its related pathways/superpathways are Pyruvate metabolism and TCA cycle III (animals). Affiliated tissues include brain, and related phenotypes are Reduced mammosphere formation and mortality/aging
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参考文献
MALACARDS
AR
Newborn
<1/1000000
7
52
11

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