Creatine Deficiency Discovered In Some Children With Developmental Delay

Tuesday, September 20, 2005

CINCINNATI -- Researchers at Cincinnati Children's Hospital Medical Center have identified a deficiency in a molecule involved in energy production in the brains of some male children and adolescents who are developmentally delayed.

The discovery suggests that brain creatine transporter deficiency -- an absence or deficiency of creatine, an important molecule in the brain -- should be considered when diagnosing boys who have a developmental delay. The study is published in Developmental and Behavioral Pediatrics.

Creatine transporter deficiency was first identified in 2000 by a physician and a researcher at Cincinnati Children's. Ton deGrauw, MD, PhD, and Kim Cecil, PhD, unexpectedly discovered it in a 6-year-old patient with developmental delay, but no specific diagnosis, being followed for epilepsy. Magnetic resonance spectroscopy revealed that no creatine was present in the boy's brain. Creatine is a substance that is essential for energy storage and transfer. It is transported to the brain via the blood by the creatine transporter gene.

In the new study, Amy Newmeyer, MD, a developmental pediatrician at Cincinnati Children's, did a retrospective review of the medical records of 14 male children or adolescents who had met criteria for global developmental delay. This is a delay in at least two developmental categories, such as speech, social skills, cognition, motor skills, or activities of daily living, which cannot otherwise be explained. Thus, a condition such as Down syndrome would not constitute a global developmental delay, even though two developmental categories may be affected.

Two of the 14 patients had brain creatine deficiency as detected by magnetic resonance spectroscopy, which is routinely performed on any male child or adolescent at Cincinnati Children's with a history of language and / or developmental delay referred for a brain MRI.

"This study can explain a certain percentage of children with an otherwise unexplained cause of global developmental delay," says Dr. Newmeyer. "We are currently waiting for data on another study screening boys with autism for creatine deficiency."

Creatine is a natural compound essential for energy storage and transfer. In recent years, however, it has sometimes "been lumped into the same category as steroids and banned athletic enhancement drugs," says Dr. deGrauw, director of Neurology at Cincinnati Children's and senior author of Dr. Newmeyer's study. "It's like salt in that you need it, but too much of it can be harmful. Creatine is found in all meats, but about 60-70 percent of people aren't getting enough of it."

Co-authors of the study include Dr. Cecil, Mark Schapiro, MD, a neurologist at Cincinnati Children's, and Joseph Clark, PhD, a researcher in the Department of Neurology at the University of Cincinnati College of Medicine.

Cincinnati Children's is a 423-bed institution devoted to bringing the world the joy of healthier kids. Cincinnati Children's is dedicated to transforming the way health care is delivered by providing care that is timely, efficient, effective, family-centered, equitable and safe. It ranks third nationally among all pediatric centers in research grants from the National Institutes of Health. The Cincinnati Children's vision is to be the leader in improving child health.

Contact Information

Jim Feuer, jim.feuer@cchmc.org, 513-636-4656