Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:6.3.2.3 (
glutathione synthetase
)
678
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Pyroglutamic aciduria (5-oxoprolinuria) is a rare autosomal recessive disorder caused by either
glutathione synthetase
deficiency (GSSD) or 5-oxoprolinase deficiency. The severe form of the disease, generalized GSSD, is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive
encephalopathy
. We report a female infant who had a severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia. High level of 5-oxoproline was detected in her urine and a diagnosis of generalized GSSD was made. She died of severe metabolic acidosis and sepsis at the age of six weeks.
...
PMID:A newborn infant with generalized glutathione synthetase deficiency. 1507 78
