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

doi:10.1016/j.ymgme.2008.12.020

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

Human Genetics

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

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 language	English (US)
Pages (from-to)	273-275
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	96
Issue number	4
DOIs	https://doi.org/10.1016/j.ymgme.2008.12.020
State	Published - Apr 2009

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

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Mercimek-Mahmutoglu, S., Muehl, A., Salomons, G. S., Neophytou, B., Moeslinger, D., Struys, E., Bodamer, O. A., 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, 96(4), 273-275. https://doi.org/10.1016/j.ymgme.2008.12.020

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, 04.2009, p. 273-275.

Research output: Contribution to journal › Article › peer-review

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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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.",

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note = "Funding Information: Dr. Saadet Mercimek-Mahmutoglu was supported by SSIEM Exchange Grant, by National Austrian Treasury Research Fund ({\"O}NB 9802), and by Scientific Hospital Supply, Heilbronn, Germany. Dr. Gajja S. Salomons is financially supported the Dutch Society for Scientific research (VIDI Grant No.: 917.56.349). Patricia S. Darmin and Lorna Pope-Landegge are acknowledged for DNA sequence analysis. Copyright: Copyright 2009 Elsevier B.V., All rights reserved.",

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AB - 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.

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

Abstract

Keywords

ASJC Scopus subject areas

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