Early Indicators of Creatine Transporter Deficiency.

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TitleEarly Indicators of Creatine Transporter Deficiency.
Publication TypeJournal Article
Year of Publication2019
AuthorsMiller, JS, Thomas, RP, Bennett, A, Bianconi, S, Bruchey, A, Davis, RJ, Ficicioglu, C, Guthrie, W, Porter, FD, Thurm, A
JournalJ Pediatr
Date Published2019 Mar

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.

Alternate JournalJ. Pediatr.
PubMed ID30579583