Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities.
5-Oxoprolinuria is primarily associated with inborn errors of the gamma-glutamyl cycle. In addition, transient 5-oxoprolinuria has been reported to occur in a variety of conditions, such as prematurity and malnutrition, and during medication. We report an unusual case of permanent 5-oxoprolinuria. The patient presented 3 days after birth with acidosis, and metabolic screening revealed massive excretion of 5-oxoproline. Following recovery, growth and psychomotor development were normal, but 5-oxoprolinuria persisted. Primary defects in the gamma-glutamyl cycle were ruled out since glutathione synthase and 5-oxoprolinase activities were normal. All known secondary causes of 5-oxoprolinuria were also excluded, leaving the basis of the permanent 5-oxoprolinuria in this patient unresolved.
Ruijter
G J G
GJ
Metabolic Diseases Laboratory, Leiden University Medical Centre, The Netherlands.
Mourad-Baars
P E C
PE
Ristoff
E
E
Onkenhout
W
W
Poorthuis
B J H M
BJ
D002648:Child; D005981:Glutathione Synthase / Q000378:metabolism*; D006801:Humans; D008297:Male; D011752:Pyroglutamate Hydrolase / Q000378:metabolism*; D011761:Pyrrolidonecarboxylic Acid / Q000652:urine*
D011752:Pyroglutamate Hydrolase; D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid