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 |
|---|---|
| Pages (from-to) | 273-275 |
| Number of pages | 3 |
| Journal | Molecular Genetics and Metabolism |
| Volume | 96 |
| Issue number | 4 |
| DOIs | |
| State | Published - Apr 1 2009 |
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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 journal › Article
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TY - JOUR
T1 - Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry
AU - Mercimek-Mahmutoglu, Saadet
AU - Muehl, Adolf
AU - Salomons, Gajja S.
AU - Neophytou, Birgit
AU - Moeslinger, Dorothea
AU - Struys, Eduard
AU - Bodamer, Olaf A.
AU - Jakobs, Cornelis
AU - Stockler-Ipsiroglu, Sylvia
PY - 2009/4/1
Y1 - 2009/4/1
N2 - 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.
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.
KW - Age dependent normal values
KW - Cerebral creatine deficiency
KW - X-linked mental retardation
UR - http://www.scopus.com/inward/record.url?scp=61849132226&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=61849132226&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2008.12.020
DO - 10.1016/j.ymgme.2008.12.020
M3 - Article
C2 - 19188083
AN - SCOPUS:61849132226
VL - 96
SP - 273
EP - 275
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
SN - 1096-7192
IS - 4
ER -