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J Pediatr. 2019 Mar;206:283-285. doi: 10.1016/j.jpeds.2018.11.008. Epub 2018 Dec 20.

Early Indicators of Creatine Transporter Deficiency.

Author information

1
Center for Autism Research, The Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Electronic address: millerj3@email.chop.edu.
2
Center for Autism Research, The Children's Hospital of Philadelphia, Philadelphia, PA.
3
Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD.
4
Lumos Pharma, Inc., Austin, TX.
5
Center for Autism Research, The Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
6
Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD.
7
National Institute of Mental Health, National Institutes of Health, Bethesda, MD.

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.

KEYWORDS:

failure to thrive; infant vomiting; motor delay

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