Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry

Saadet Mercimek-Mahmutoglu, Adolf Muehl, Gajja S. Salomons, Birgit Neophytou, Dorothea Moeslinger, Eduard Struys, Olaf A. Bodamer, Cornelis Jakobs, Sylvia Stockler-Ipsiroglu

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

High urinary creatine to creatinine ratio (U-CrCrtR) is a potential diagnostic marker of X-linked creatine transporter (SLC6A8) deficiency. We developed a tandem mass-spectrometry method to simultaneously determine urinary creatine and creatinine in 975 individuals (0-18 years). U-CrCrtR increased up to 8 years and decreased thereafter. U-CrCrtR was 2.29 and 2.12 (99th percentile: 1.87) in two males with subsequently confirmed SLC6A8 mutations. The frequency of SLC6A8 deficiency was 2.3% in 157 males at risk.

Original languageEnglish
Pages (from-to)273-275
Number of pages3
JournalMolecular Genetics and Metabolism
Volume96
Issue number4
DOIs
StatePublished - Apr 1 2009

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Creatine
Tandem Mass Spectrometry
Mass spectrometry
Creatinine
Screening
Mutation
creatine transporter
X-Linked Creatine Deficiency

Keywords

  • Age dependent normal values
  • Cerebral creatine deficiency
  • X-linked mental retardation

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry. / Mercimek-Mahmutoglu, Saadet; Muehl, Adolf; Salomons, Gajja S.; Neophytou, Birgit; Moeslinger, Dorothea; Struys, Eduard; Bodamer, Olaf A.; Jakobs, Cornelis; Stockler-Ipsiroglu, Sylvia.

In: Molecular Genetics and Metabolism, Vol. 96, No. 4, 01.04.2009, p. 273-275.

Research output: Contribution to journalArticle

Mercimek-Mahmutoglu, S, Muehl, A, Salomons, GS, Neophytou, B, Moeslinger, D, Struys, E, Bodamer, OA, Jakobs, C & Stockler-Ipsiroglu, S 2009, 'Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry', Molecular Genetics and Metabolism, vol. 96, no. 4, pp. 273-275. https://doi.org/10.1016/j.ymgme.2008.12.020
Mercimek-Mahmutoglu, Saadet ; Muehl, Adolf ; Salomons, Gajja S. ; Neophytou, Birgit ; Moeslinger, Dorothea ; Struys, Eduard ; Bodamer, Olaf A. ; Jakobs, Cornelis ; Stockler-Ipsiroglu, Sylvia. / Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry. In: Molecular Genetics and Metabolism. 2009 ; Vol. 96, No. 4. pp. 273-275.
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