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Differential diagnosis For other causes of 5-oxoprolinuria, besides 5-oxoprolinase deficiency and glutathione synthetase deficiency [9, 29], please see Table 1

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Dosing was changed to 2mg twice a week and all symptoms have been remained significantly improved

The enzyme cystathionine--synthase (CBS) that catalyzes the first step in the transsulfuration pathway is highly expressed in liver cells but not highly expressed in peripheral cells, so it is not surprising that the liver is the major producer of GSH, much of which is exported to the plasma and enzymatically broken down to cysteinylglycine and cyst(e)ine that is subsequently taken up by other cells for GSH synthesis