Glutathione Synthetase Deficiency (GSSD)

Glutathione Synthetase Deficiency(来自ICD-11)
别称:
Glutathione Synthetase Deficiency with 5-Oxoprolinuria
Gluthathione Synthetase Deficiency
Pyroglutamic Aciduria
5-Oxoprolinuria
Pyroglutamicaciduria
Deficiency of Glutathione Synthetase
Deficiency of Glutathione Synthase
5-Oxoprolinase Deficiency
Pyroglutamic Acidemia
5-Oxoprolinemia
Gss Deficiency
Gssd
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Glutathione Synthetase Deficiency, also known as gluthathione synthetase deficiency, is related to hemolytic anemia and bilirubin metabolic disorder, and has symptoms including abdominal pain, diarrhea and vomiting. An important gene associated with Glutathione Synthetase Deficiency is GSS (Glutathione Synthetase), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include brain and neutrophil, and related phenotypes are hemolytic anemia and abnormality of immune system physiology
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参考文献
MALACARDS
AR
Unknown
<1/1000000
13
67
30

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