Gamma-glutamylcysteine synthetase deficiency
Alerts and Notices
Important News & Links
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
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
Gamma-glutamylcysteine synthetase deficiency