The laboratory has an ongoing project with BUMC's nephrology department concerning 5-oxoprolinuria
caused by chronic toxicity of acetaminophen in patients with kidney failure and conducted research on the effects of maternal smoking on amino acids and acylcarnitines.
Transient 5-oxoprolinuria (pyroglutamic aciduria) with systemic acidosis in an adult receiving antibiotic therapy.
Transient 5-oxoprolinuria and high anion gap metabolic acidosis: clinical and biochemical findings in eleven subjects.
Pyroglutamic acidemia, or 5-oxoprolinuria
, is caused by a glutathione synthetase deficiency, an inherited metabolic condition that may show in early infancy as persistent or acute metabolic acidosis associated with chronic hemolytic anemia (1).
The two adult subjects with 5-oxoprolinuria presented acutely with symptoms not associated with either of these two genetic diseases.
The subjects with 5-oxoprolinuria described in this report clearly represent a heterogeneous and distinct group compared with subjects with 5-oxoprolinuria produced by genetic enzyme deficiencies in the [gamma]-glutamyl cycle, although the concentrations of 5-oxoproline were similar to those seen in the latter group (19).
None of the subjects were taking vigabatrin or on artificial feeds known to induce 5-oxoprolinuria.
Two previously reported subjects with transient 5-oxoprolinuria had also received acetaminophen (1, 2).
5-Oxoprolinuria (pyroglutamic aciduria) is a condition characterized by increased production and urinary excretion of 5-oxoproline.
Besides the documented cases involving true inborn errors of glutathione synthesis resulting in 5-oxoprolinuria, some cases of apparently induced states of 5-oxoprolinuria without any evidence of inherited metabolic defects in the [gamma]-glutamyl cycle have also been reported.
The transient 5-oxoprolinuria with normal glutathione concentration appeared to be the only obvious cause of the severe high anion gap metabolic acidosis in this patient.
This case is similar to a previous case of transient 5-oxoprolinuria reported in 1989 , where the source of the metabolite accumulation was suggested to be attributable to an acquired deficiency of glutathione synthetase or 5-oxoprolinase activity, gastrointestinal absorption of 5-oxoproline from an unidentified dietary source, or some combination of these factors.