Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.
(1998) Annals of Neurology — Vol. 44, n° 2, p. 261-265 (1998)
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- Abstract
- 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is an inborn error of serine biosynthesis. Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures. The effects of oral treatment with amino acids were investigated in 2 siblings. L-Serine up to 500 mg/kg/day was not sufficient for seizure control. Addition of glycine 200 mg/kg/day resulted in complete disappearance of seizures. Electroencephalographic abnormalities gradually resolved after 6 months. We conclude that 3-PGDH can be treated effectively by a combination of L-serine and glycine.
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de Koning, T. J., Duran, M., Dorland, L., Gooskens, R., Van Schaftingen, E., Jaeken, J., Blau, N., Berger, R., & Poll-The, B. T. (1998). Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. Annals of Neurology, 44(2), 261-265. https://doi.org/10.1002/ana.410440219 (Original work published 1998)