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Early Indicators of Creatine Transporter Deficiency
Judith S Miller1, Rebecca P Thomas2, Amanda Bennett2
1Center for Autism Research, The Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
The Journal of Pediatrics
|December 24, 2018
Summary
Early identification of creatine transporter deficiency is crucial for treatment. Many infants show feeding issues and delayed motor skills before age one, suggesting a need for urine screening.
Area of Science:
- Biochemistry
- Pediatric Neurology
Background:
- Creatine transporter deficiency (CTD) is a rare genetic disorder.
- Early identification of CTD is essential for timely intervention and management.
- Current diagnostic approaches may not capture all affected individuals early on.
Purpose of the Study:
- To highlight the importance of early identification of creatine transporter deficiency.
- To identify key early developmental indicators in infants with CTD.
- To propose improved screening strategies for CTD.
Main Methods:
- Retrospective analysis of clinical data from infants diagnosed with CTD.
- Evaluation of developmental milestones and feeding patterns in the first year of life.
- Correlation of early signs with diagnostic confirmation.
Main Results:
- Half of the studied infants exhibited significant feeding or weight gain problems before their first birthday.
- Delayed sitting or crawling was observed in 50% of infants before age one.
- The combination of feeding issues and delayed motor skills presented as potential early warning signs.
Conclusions:
- Feeding difficulties and delayed motor development are significant early indicators of CTD.
- These combined early signs could prompt healthcare providers to consider urine screening for CTD.
- Implementing screening based on these indicators may improve early diagnosis and treatment initiation for CTD.
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