Treatment with amino acids in serine deficiency disorders
(2006) In Journal of Inherited Metabolic Disease 29(2-3). p.347-351- Abstract
Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. At present two disorders have been reported: 3-phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition in patients with 3-phosphoglycerate dehydrogenase deficiency to intractable seizures. These symptoms respond to a variable degree to treatment with L-serine, sometimes combined with glycine. In this paper the current practice of amino acid treatment with L-serine and glycine in serine deficiency is reviewed.
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- author
- de Koning, T. J. LU
- publishing date
- 2006-04-01
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Journal of Inherited Metabolic Disease
- volume
- 29
- issue
- 2-3
- pages
- 5 pages
- publisher
- Springer
- external identifiers
-
- scopus:33745105728
- pmid:16763900
- ISSN
- 0141-8955
- DOI
- 10.1007/s10545-006-0269-0
- language
- English
- LU publication?
- no
- id
- 9ece6ed4-2b75-4f0a-aca7-c831baff8a64
- date added to LUP
- 2020-03-03 19:02:53
- date last changed
- 2024-05-29 10:05:30
@article{9ece6ed4-2b75-4f0a-aca7-c831baff8a64, abstract = {{<p>Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. At present two disorders have been reported: 3-phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition in patients with 3-phosphoglycerate dehydrogenase deficiency to intractable seizures. These symptoms respond to a variable degree to treatment with L-serine, sometimes combined with glycine. In this paper the current practice of amino acid treatment with L-serine and glycine in serine deficiency is reviewed.</p>}}, author = {{de Koning, T. J.}}, issn = {{0141-8955}}, language = {{eng}}, month = {{04}}, number = {{2-3}}, pages = {{347--351}}, publisher = {{Springer}}, series = {{Journal of Inherited Metabolic Disease}}, title = {{Treatment with amino acids in serine deficiency disorders}}, url = {{http://dx.doi.org/10.1007/s10545-006-0269-0}}, doi = {{10.1007/s10545-006-0269-0}}, volume = {{29}}, year = {{2006}}, }