Serinedeficiëntie
(2003) In Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 28(6). p.325-328- Abstract
Serine-synthesis disorders have recently been described as a new group of inborn errors of metabolism due to a deficiency of the amino acid serine. Until now two defects have been reported, first 3-fosfoglycerate dehydrogenase (3-PGDH) deficiency and secondly 3-fosfoserine phosphatase (3-PSP) deficiency. Both disorders present with congenital microcephaly, severe psychomotor retardation and in 3-PGDH intractable seizures. Disorders of serine synthesis are potentially treatable disorders and the first results of serine supplementation are very promising. The biochemical diagnosis is based on the detection of low concentrations of serine and to a variable extend of glycine in fasted plasma samples or cerebrospinal fluid. For those... (More)
Serine-synthesis disorders have recently been described as a new group of inborn errors of metabolism due to a deficiency of the amino acid serine. Until now two defects have been reported, first 3-fosfoglycerate dehydrogenase (3-PGDH) deficiency and secondly 3-fosfoserine phosphatase (3-PSP) deficiency. Both disorders present with congenital microcephaly, severe psychomotor retardation and in 3-PGDH intractable seizures. Disorders of serine synthesis are potentially treatable disorders and the first results of serine supplementation are very promising. The biochemical diagnosis is based on the detection of low concentrations of serine and to a variable extend of glycine in fasted plasma samples or cerebrospinal fluid. For those involved in the biochemical diagnosis of inborn errors, low concentrations of amino acids should be alarming to the same extend as high concentrations.
(Less)
- author
- De Koning, T. J. LU ; Klomp, L. W J ; Van Den Berg, I. E T ; Dorland, L. and Berger, R.
- alternative title
- Serine deficiency
- publishing date
- 2003-11-01
- type
- Contribution to journal
- publication status
- published
- keywords
- 3-phosphoserine phosphatase, Convulsion, Inborn error of metabolism, Inherited metabolic disease, L-serine, 3-phosphoglycerate dehydrogenase, Liquor, Psychomotor retardation
- in
- Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde
- volume
- 28
- issue
- 6
- pages
- 4 pages
- publisher
- Nederlandse Vereniging voor Klinische Chemie
- external identifiers
-
- scopus:0345924141
- ISSN
- 1570-8306
- language
- Dutch
- LU publication?
- no
- id
- 8ed4d246-0c1e-414b-b7b0-c10cee33f42c
- date added to LUP
- 2020-03-03 19:08:28
- date last changed
- 2022-02-01 04:54:12
@article{8ed4d246-0c1e-414b-b7b0-c10cee33f42c,
abstract = {{<p>Serine-synthesis disorders have recently been described as a new group of inborn errors of metabolism due to a deficiency of the amino acid serine. Until now two defects have been reported, first 3-fosfoglycerate dehydrogenase (3-PGDH) deficiency and secondly 3-fosfoserine phosphatase (3-PSP) deficiency. Both disorders present with congenital microcephaly, severe psychomotor retardation and in 3-PGDH intractable seizures. Disorders of serine synthesis are potentially treatable disorders and the first results of serine supplementation are very promising. The biochemical diagnosis is based on the detection of low concentrations of serine and to a variable extend of glycine in fasted plasma samples or cerebrospinal fluid. For those involved in the biochemical diagnosis of inborn errors, low concentrations of amino acids should be alarming to the same extend as high concentrations.</p>}},
author = {{De Koning, T. J. and Klomp, L. W J and Van Den Berg, I. E T and Dorland, L. and Berger, R.}},
issn = {{1570-8306}},
keywords = {{3-phosphoserine phosphatase; Convulsion; Inborn error of metabolism; Inherited metabolic disease; L-serine, 3-phosphoglycerate dehydrogenase; Liquor; Psychomotor retardation}},
language = {{mis}},
month = {{11}},
number = {{6}},
pages = {{325--328}},
publisher = {{Nederlandse Vereniging voor Klinische Chemie}},
series = {{Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde}},
title = {{Serinedeficiëntie}},
volume = {{28}},
year = {{2003}},
}