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 acidemia, a rare metabolic disorder, usually appears in infancy. It is characterized by retardation, ataxia, hemolytic anemia, and chronic acidosis and is caused by a marked deficiency of
glutathione synthetase
(
EC 6.3.2.3
) activity. This disease is inherited as an autosomal recessive trait, but the clinical condition is also detected in heterozygotes. We report an unusual case of high-anion-gap metabolic acidosis in a 52-year-old woman who was admitted with neurological complaints and breathing problems but without the characteristic clinical features of congenital
glutathione synthetase
deficiency. The etiology of the acidosis could not be attributed to ketoacidosis, lactic acidosis, or ingestion of
methanol
, salicylate, or ethylene glycol. Analysis of the patient's plasma and urine for organic acids revealed the presence of high concentrations of pyroglutamate (5-oxoproline), which remained high throughout her hospitalization.
...
PMID:Pyroglutamic acidemia in an adult patient. 229 27
