Glutamate-Cysteine Ligase Deficiency

Glutamate-Cysteine Ligase Deficiency(来自ICD-11)
别称:
Gamma-Glutamylcysteine Synthetase Deficiency
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to
Hemolytic Anemia Due to Gamma-Glutamylcysteine Synthetase Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Glutamate-Cysteine Ligase Deficiency, also known as gamma-glutamylcysteine synthetase deficiency, is related to deficiency anemia and hemolytic anemia. An important gene associated with Glutamate-Cysteine Ligase Deficiency is GCLC (Glutamate-Cysteine Ligase Catalytic Subunit), and among its related pathways/superpathways are Glutathione conjugation and One-carbon metabolism and related pathways. Affiliated tissues include cortex, and related phenotypes are hemolytic anemia and myopathy
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相关ID:
MESH:C565557

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参考文献
MALACARDS
AR
Infant
<1/1000000
5
42
1

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