SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations

被引：1

作者：

Sanders, Karen ^{[1
]}

Peck, Dawn ^{[1
]}

Pino, Gisele Bentz ^{[1
]}

Jones, April Studinski ^{[1
]}

White, Amy ^{[1
]}

Gavrilov, Dimitar ^{[1
]}

Matern, Dietrich ^{[1
]}

Oglesbee, Devin ^{[1
]}

Schultz, Matthew ^{[1
]}

Tortorelli, Silvia ^{[1
]}

Hall, Patricia L. ^{[1
]}

机构：

[1] Mayo Clin, Dept Lab Med & Pathol, Biochem Genet Lab, Rochester, MN 55905 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2024年 / 142卷 / 01期

关键词：

Creatine transporter deficiency; slc6a8; Creatine; Creatinine;

D O I：

10.1016/j.ymgme.2024.108455

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Creatine transporter deficiency has been described with normal or uninformative levels of creatine and creatinine in plasma, while urine has been the preferred specimen type for biochemical diagnosis. We report a cohort of untreated patients with creatine transporter deficiency and abnormal plasma creatine panel results, characterized mainly by markedly decreased plasma creatinine. We conclude that plasma should be considered a viable specimen type for the biochemical diagnosis of this disorder, and abnormal results should be followed up with further confirmatory testing.

引用

页数：3

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