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

De Koning, Tom J. LU ; Duran, Marinus ; Dorland, Lambertus ; Gooskens, Rob ; Van Schaftingen, Emile ; Jacken, Jaak ; Blau, Nenad ; Berger, Ruud and Poll-The, Bwee Tien (1998) In Annals of Neurology 44(2). p.261-265
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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author
; ; ; ; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
in
Annals of Neurology
volume
44
issue
2
pages
5 pages
publisher
John Wiley & Sons Inc.
external identifiers
  • scopus:0031830219
  • pmid:9708551
ISSN
0364-5134
DOI
10.1002/ana.410440219
language
English
LU publication?
no
id
63396b17-d84a-4b70-8974-15b4564845ac
date added to LUP
2020-03-03 19:21:40
date last changed
2024-03-20 07:07:10
@article{63396b17-d84a-4b70-8974-15b4564845ac,
  abstract     = {{<p>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.</p>}},
  author       = {{De Koning, Tom J. and Duran, Marinus and Dorland, Lambertus and Gooskens, Rob and Van Schaftingen, Emile and Jacken, Jaak and Blau, Nenad and Berger, Ruud and Poll-The, Bwee Tien}},
  issn         = {{0364-5134}},
  language     = {{eng}},
  month        = {{08}},
  number       = {{2}},
  pages        = {{261--265}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Annals of Neurology}},
  title        = {{Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency}},
  url          = {{http://dx.doi.org/10.1002/ana.410440219}},
  doi          = {{10.1002/ana.410440219}},
  volume       = {{44}},
  year         = {{1998}},
}