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
N1 - Funding Information:
Dr. Saadet Mercimek-Mahmutoglu was supported by SSIEM Exchange Grant, by National Austrian Treasury Research Fund (ÖNB 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.
PY - 2009/4
Y1 - 2009/4
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
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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 -