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.
Copyright © 2018 Elsevier Inc. All rights reserved.
Publication types
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Research Support, N.I.H., Intramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Age Factors
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Brain Diseases, Metabolic, Inborn / complications
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Brain Diseases, Metabolic, Inborn / diagnosis*
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Child
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Child, Preschool
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Creatine / deficiency*
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Female
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Humans
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Infant
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Infant, Newborn
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Male
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Mental Retardation, X-Linked / complications
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Mental Retardation, X-Linked / diagnosis*
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Plasma Membrane Neurotransmitter Transport Proteins / deficiency*
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Retrospective Studies
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Risk Factors
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Symptom Assessment
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Urinalysis
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Young Adult
Substances
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Plasma Membrane Neurotransmitter Transport Proteins
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Creatine
Supplementary concepts
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Creatine deficiency, X-linked