5-Oxoprolinuria (Pyroglutamic Aciduria). Glutathione synthetase deficiency.
Incidence
Mod. rare (apprx 30 pts)
Clinical Characteristics
Neonatal hemolitic hypochromic microcytic anemia, asympt. between crisis. May have mental retardation. 5-Oxoproline (pyroglutamic acid) in urine may be seen with acetaminophen or vigabatrin ingestion (not related with the disease).
Precipitants
stress such as surgery, G6PD triggering foods. vitamin K1
Provocation Tests
no
Diagnostic Procedures
Glutathione synthetase deficiency: EB-erythrocyte, erythrocyte glutathione content. Urine GC/MS, blood tandem M/S.