Contents

SynopsisCodesBest TestsReferences
Gamma-glutamylcysteine synthetase deficiency
Other Resources UpToDate PubMed

Gamma-glutamylcysteine synthetase deficiency

Other Resources UpToDate PubMed

Synopsis

Glutathione deficiency due to gamma-glutamylcysteine synthetase deficiency. An autosomal recessive disease that causes nonspherocytic hemolytic anemia. Extremely rare. Hemolytic anemia is usually not severe. Other findings include hyperreflexia, jaundice, icteric sclera, peripheral neuropathy, splenomegaly, ataxia, dysarthria, biliary calculus, and hepatomegaly. Laboratory results may also show reticulocytosis and elevated bilirubin. Prognosis is difficult to determine due to the condition's extreme rarity.

Codes

ICD10CM:
E72.89 – Other specified disorders of amino-acid metabolism

SNOMEDCT:
36799008 – Glutamate-cysteine ligase deficiency

Best Tests

Subscription Required

References

Subscription Required

Last Updated:01/16/2022
Copyright © 2022 VisualDx®. All rights reserved.
Gamma-glutamylcysteine synthetase deficiency
Print  
A medical illustration showing key findings of Gamma-glutamylcysteine synthetase deficiency : Hemolytic anemia, Hyperreflexia, Neuropathy peripheral, Reticulocytosis, Splenomegaly, RBC decreased
Copyright © 2022 VisualDx®. All rights reserved.