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

Mol Genet Metab. 2009 Apr;96(4):273-5. doi: 10.1016/j.ymgme.2008.12.020. Epub 2009 Feb 1.

Authors

Saadet Mercimek-Mahmutoglu¹, Adolf Muehl, Gajja S Salomons, Birgit Neophytou, Dorothea Moeslinger, Eduard Struys, Olaf A Bodamer, Cornelis Jakobs, Sylvia Stockler-Ipsiroglu

Affiliation

¹ Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver, BC, Canada V6H 3V4.

PMID: 19188083
DOI: 10.1016/j.ymgme.2008.12.020

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Age Distribution
Aging / urine
Child
Child, Preschool
Creatine / urine*
Creatinine / urine*
Female
Genes, X-Linked*
Genetic Testing*
Humans
Infant
Infant, Newborn
Male
Membrane Transport Proteins / deficiency*
Membrane Transport Proteins / genetics*
Tandem Mass Spectrometry*

Substances

Membrane Transport Proteins
creatine transporter
Creatinine
Creatine