Rett Syndrome Clinical Trial
Official title:
Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism
Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder. Despite their good
appetite, many females with RTT meet the criteria for moderate to severe malnutrition. The
pathological mechanism is barely understood. Although feeding difficulties may play a role
in this, other constitutional factors as altered metabolic processes are suspected.
Preliminary research showed elevated plasma creatine concentrations and increased urinary
creatine/creatinine ratios in half of the RTT girls.
The aim of this study is to confirm previous findings and examine the functionality of the
creatine transporter in RTT girls.
The investigators assume that previous findings will be confirmed, and are due to an altered
functionality of the creatine transporter.
n/a
Time Perspective: Cross-Sectional
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