Early Indicators of Creatine Transporter Deficiency.
Where this comes from
- Record sourced from PubMed, PMID 30579583.
- Also identified by DOI 10.1016/j.jpeds.2018.11.008 and PMC identifier 6693671.
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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.
Medical subject headings
- Brain Diseases, Metabolic, Inborn
- Creatine
- X-Linked Intellectual Disability
- Plasma Membrane Neurotransmitter Transport Proteins