PHGDH

Management

Currently, there is no known cure for PHGDH-related disorder. Treatment of the manifestations, symptom management, and supportive care are recommended and can be managed by the appropriate specialty. It is suggested that early maternal supplementation with serine and glycine can be used in families at risk of this disease or those who are diagnosed in early gestation with NLS in order to decrease the severity and fatality of the disease.