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: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

Research output: Contribution to journal › Article › Academic › peer-review

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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
Number of pages	5
Journal	Annals of Neurology
Volume	44
Issue number	2
DOIs	https://doi.org/10.1002/ana.410440219
Publication status	Published - Aug-1998
Externally published	Yes

Keywords

Carbohydrate Dehydrogenases
Child
Child, Preschool
Drug Therapy, Combination
Electroencephalography
Glycine
Humans
Infant, Newborn
Intellectual Disability
Male
Microcephaly
Phosphoglycerate Dehydrogenase
Seizures
Serine
Tetrahydrofolates
Case Reports
Journal Article

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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.",

keywords = "Carbohydrate Dehydrogenases, Child, Child, Preschool, Drug Therapy, Combination, Electroencephalography, Glycine, Humans, Infant, Newborn, Intellectual Disability, Male, Microcephaly, Phosphoglycerate Dehydrogenase, Seizures, Serine, Tetrahydrofolates, Case Reports, Journal Article",

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}",

year = "1998",

month = aug,

doi = "10.1002/ana.410440219",

language = "English",

volume = "44",

pages = "261--265",

journal = "Annals of Neurology",

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 - 1998/8

Y1 - 1998/8

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.

KW - Carbohydrate Dehydrogenases

KW - Child

KW - Child, Preschool

KW - Drug Therapy, Combination

KW - Electroencephalography

KW - Glycine

KW - Humans

KW - Infant, Newborn

KW - Intellectual Disability

KW - Male

KW - Microcephaly

KW - Phosphoglycerate Dehydrogenase

KW - Seizures

KW - Serine

KW - Tetrahydrofolates

KW - Case Reports

KW - Journal Article

U2 - 10.1002/ana.410440219

DO - 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 -

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

Abstract

Keywords

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