Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Treatment with amino acids in serine deficiency disorders

de Koning, T. J. LU (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.

Please use this url to cite or link to this publication:
author
publishing date
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}},
}