Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations : Implications for the diagnosis and follow-up of serine biosynthesis disorders
(2010) In Molecular Genetics and Metabolism 101(2-3). p.149-152- Abstract
The disorders of serine biosynthesis are a group of inborn errors of metabolism characterised by congenital microcephaly, seizures and severe psychomotor retardation. Although these disorders are rare the prompt recognition of serine deficiency is important as these disorders are treatable. The diagnosis is based on decreased concentrations of serine in cerebrospinal fluid (CSF). It has previously been reported that CSF serine concentrations are inversely associated with age. However, accurate age-related reference intervals have not been generated which has contributed to cases not being identified. In a multicentre study involving 9 different laboratories a total of 424 CSF serine results were obtained. Regression based analyses were... (More)
The disorders of serine biosynthesis are a group of inborn errors of metabolism characterised by congenital microcephaly, seizures and severe psychomotor retardation. Although these disorders are rare the prompt recognition of serine deficiency is important as these disorders are treatable. The diagnosis is based on decreased concentrations of serine in cerebrospinal fluid (CSF). It has previously been reported that CSF serine concentrations are inversely associated with age. However, accurate age-related reference intervals have not been generated which has contributed to cases not being identified. In a multicentre study involving 9 different laboratories a total of 424 CSF serine results were obtained. Regression based analyses were performed to calculate age-specific reference intervals. Lower reference intervals for subjects aged 1. week, 1. month, 6. months, 1. year, 3. years and 15. years were 35.0, 31.0, 26.0, 24.0, 21.0 and 17.0 μmol/L respectively. Assessment of CSF serine concentrations in 11 patients (aged 1. day to 13. years) previously diagnosed with disorders of serine biosynthesis (serine concentrations ranging from 5 to 18 μmol/L) were clearly decreased compared to our age-related reference intervals and would have correctly identified all cases, thus enabling prompt treatment. However, if age had not been taken into consideration a reference interval of 12.6-69.4 μmol/L would be obtained for the combined data set and would have resulted in 2 cases being missed. In conclusion, appropriate age-related reference intervals for CSF serine should be used to diagnose patients with inborn errors of serine biosynthesis.
(Less)
- author
- publishing date
- 2010-10-01
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Cerebrospinal fluid, Diagnosis, Reference intervals, Serine
- in
- Molecular Genetics and Metabolism
- volume
- 101
- issue
- 2-3
- pages
- 4 pages
- publisher
- Elsevier
- external identifiers
-
- scopus:77957226296
- pmid:20692860
- ISSN
- 1096-7192
- DOI
- 10.1016/j.ymgme.2010.07.006
- language
- English
- LU publication?
- no
- id
- 70e090c4-c1af-42e4-8bce-f6d2c4422a9f
- date added to LUP
- 2020-02-26 10:24:24
- date last changed
- 2024-01-31 17:43:08
@article{70e090c4-c1af-42e4-8bce-f6d2c4422a9f,
abstract = {{<p>The disorders of serine biosynthesis are a group of inborn errors of metabolism characterised by congenital microcephaly, seizures and severe psychomotor retardation. Although these disorders are rare the prompt recognition of serine deficiency is important as these disorders are treatable. The diagnosis is based on decreased concentrations of serine in cerebrospinal fluid (CSF). It has previously been reported that CSF serine concentrations are inversely associated with age. However, accurate age-related reference intervals have not been generated which has contributed to cases not being identified. In a multicentre study involving 9 different laboratories a total of 424 CSF serine results were obtained. Regression based analyses were performed to calculate age-specific reference intervals. Lower reference intervals for subjects aged 1. week, 1. month, 6. months, 1. year, 3. years and 15. years were 35.0, 31.0, 26.0, 24.0, 21.0 and 17.0 μmol/L respectively. Assessment of CSF serine concentrations in 11 patients (aged 1. day to 13. years) previously diagnosed with disorders of serine biosynthesis (serine concentrations ranging from 5 to 18 μmol/L) were clearly decreased compared to our age-related reference intervals and would have correctly identified all cases, thus enabling prompt treatment. However, if age had not been taken into consideration a reference interval of 12.6-69.4 μmol/L would be obtained for the combined data set and would have resulted in 2 cases being missed. In conclusion, appropriate age-related reference intervals for CSF serine should be used to diagnose patients with inborn errors of serine biosynthesis.</p>}},
author = {{Moat, Stuart and Carling, Rachel and Nix, Authur and Henderson, Michael and Briddon, Anthony and Prunty, Helen and Talbot, Roy and Powell, Annette and Wright, Katherine and Fuchs, Sabine and de Koning, Tom}},
issn = {{1096-7192}},
keywords = {{Cerebrospinal fluid; Diagnosis; Reference intervals; Serine}},
language = {{eng}},
month = {{10}},
number = {{2-3}},
pages = {{149--152}},
publisher = {{Elsevier}},
series = {{Molecular Genetics and Metabolism}},
title = {{Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations : Implications for the diagnosis and follow-up of serine biosynthesis disorders}},
url = {{http://dx.doi.org/10.1016/j.ymgme.2010.07.006}},
doi = {{10.1016/j.ymgme.2010.07.006}},
volume = {{101}},
year = {{2010}},
}