Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

T. J. de Koning; M. Duran; L. Dorland; R. Gooskens; E. van Schaftingen; J. Jaeken; N. Blau; R. Berger; B. T. Poll-The

doi:https://doi.org/10.1002/ana.410440219

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

T. J. de Koning, M. Duran, L. Dorland, R. Gooskens, E. van Schaftingen, J. Jaeken, N. Blau, R. Berger, B. T. Poll-The

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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

Original language	English
Pages (from-to)	261-265
Journal	Annals of neurology
Volume	44
Issue number	2
DOIs	https://doi.org/10.1002/ana.410440219
Publication status	Published - 1998

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https://doi.org/10.1002/ana.410440219

Cite this

@article{804229d47d064c6c9f406145719ce052,

title = "Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency",

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",

author = "{de Koning}, {T. J.} and M. Duran and L. Dorland and R. Gooskens and {van Schaftingen}, E. and J. Jaeken and N. Blau and R. Berger and Poll-The, {B. T.}",

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doi = "https://doi.org/10.1002/ana.410440219",

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issn = "0364-5134",

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TY - JOUR

T1 - Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

AU - de Koning, T. J.

AU - Duran, M.

AU - Dorland, L.

AU - Gooskens, R.

AU - van Schaftingen, E.

AU - Jaeken, J.

AU - Blau, N.

AU - Berger, R.

AU - Poll-The, B. T.

PY - 1998

Y1 - 1998

N2 - 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

AB - 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

U2 - https://doi.org/10.1002/ana.410440219

DO - https://doi.org/10.1002/ana.410440219

M3 - Article

C2 - 9708551

SN - 0364-5134

VL - 44

SP - 261

EP - 265

JO - Annals of neurology

JF - Annals of neurology

IS - 2

ER -