Early Indicators of Creatine Transporter Deficiency.

Paradigms and Technologies
Rare Disease

Abstract

Early identification is a goal for creatine transporter deficiency and will be critical for future treatment. Before their first birthday, one-half of this sample showed both a significant feeding/weight gain issue and delayed sitting or crawling. Combined, these early indicators could have alerted providers to conduct a urine screen.

Authors

Miller, Judith; Thomas, Rebecca P; Bennett, Amanda; Bianconi, Simona; Bruchey, Aleksandra; Davis, Robert J; Ficicioglu, Can; Guthrie, Whitney; Porter, Forbes D; Thurm, Audrey;

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