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An update on serine deficiency disorders

Van Der Crabben, S. N. ; Verhoeven-Duif, N. M. ; Brilstra, E. H. ; Van Maldergem, L. ; Coskun, T. ; Rubio-Gozalbo, E. ; Berger, R. and De Koning, T. J. LU (2013) In Journal of Inherited Metabolic Disease 36(4). p.613-619
Abstract

Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders give rise to a neurological phenotype with psychomotor retardation, microcephaly and seizures in newborns and children or progressive polyneuropathy in adult patients. There are three defects that cause serine deficiency of which 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, the defect affecting the first step in the pathway, has been reported most frequently. The other two disorders in L-serine biosynthesis phosphoserine aminotransferase (PSAT) deficiency and phosphoserine phosphatase (PSP) deficiency have been reported only in a limited number of patients. The biochemical... (More)

Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders give rise to a neurological phenotype with psychomotor retardation, microcephaly and seizures in newborns and children or progressive polyneuropathy in adult patients. There are three defects that cause serine deficiency of which 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, the defect affecting the first step in the pathway, has been reported most frequently. The other two disorders in L-serine biosynthesis phosphoserine aminotransferase (PSAT) deficiency and phosphoserine phosphatase (PSP) deficiency have been reported only in a limited number of patients. The biochemical hallmarks of all three disorders are low concentrations of serine in cerebrospinal fluid and plasma. Prompt recognition of affected patients is important, since serine deficiency disorders are treatable causes of neurometabolic disorders. The use of age-related reference values for serine in CSF and plasma can be of great help in establishing a correct diagnosis of serine deficiency, in particular in newborns and young children.

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publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Inherited Metabolic Disease
volume
36
issue
4
pages
7 pages
publisher
Springer
external identifiers
  • scopus:84880239424
  • pmid:23463425
ISSN
0141-8955
DOI
10.1007/s10545-013-9592-4
language
English
LU publication?
no
id
0e979e96-cd87-4286-86fe-51fcbbee1bff
date added to LUP
2020-02-26 10:12:50
date last changed
2024-05-29 10:00:08
@article{0e979e96-cd87-4286-86fe-51fcbbee1bff,
  abstract     = {{<p>Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders give rise to a neurological phenotype with psychomotor retardation, microcephaly and seizures in newborns and children or progressive polyneuropathy in adult patients. There are three defects that cause serine deficiency of which 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, the defect affecting the first step in the pathway, has been reported most frequently. The other two disorders in L-serine biosynthesis phosphoserine aminotransferase (PSAT) deficiency and phosphoserine phosphatase (PSP) deficiency have been reported only in a limited number of patients. The biochemical hallmarks of all three disorders are low concentrations of serine in cerebrospinal fluid and plasma. Prompt recognition of affected patients is important, since serine deficiency disorders are treatable causes of neurometabolic disorders. The use of age-related reference values for serine in CSF and plasma can be of great help in establishing a correct diagnosis of serine deficiency, in particular in newborns and young children.</p>}},
  author       = {{Van Der Crabben, S. N. and Verhoeven-Duif, N. M. and Brilstra, E. H. and Van Maldergem, L. and Coskun, T. and Rubio-Gozalbo, E. and Berger, R. and De Koning, T. J.}},
  issn         = {{0141-8955}},
  language     = {{eng}},
  month        = {{07}},
  number       = {{4}},
  pages        = {{613--619}},
  publisher    = {{Springer}},
  series       = {{Journal of Inherited Metabolic Disease}},
  title        = {{An update on serine deficiency disorders}},
  url          = {{http://dx.doi.org/10.1007/s10545-013-9592-4}},
  doi          = {{10.1007/s10545-013-9592-4}},
  volume       = {{36}},
  year         = {{2013}},
}