Early Indicators of Creatine Transporter Deficiency

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.

Source: The Journal of Pediatrics - December 20, 2018 Category: Pediatrics Authors: Judith S. Miller, Rebecca P. Thomas, Amanda Bennett, Simona Bianconi, Aleksandra Bruchey, Robert J. Davis, Can Ficicioglu, Whitney Guthrie, Forbes D. Porter, Audrey Thurm Tags: Clinical and laboratory observations Source Type: research