Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/63396b17-d84a-4b70-8974-15b4564845ac
- author
- 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
- publishing date
- 1998-08-01
- 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}}, }