Creatine deficiency in newborns linked to brain damage

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by KING 5 HealthLink

KING5.com

Posted on May 27, 2014 at 6:14 PM

At 6-months-old, John Klor was misdiagnosed with cerebral palsy.  

"It kind of took our world and flipped it upside down," said his mother Melissa Klor.

But a second-opinion changed everything when a team at Duke University Medical Center diagnosed Klor with a creatine deficiency, known as GAMT deficiency. 

Creatine is a nitrogenous organic acid that helps supply energy to cells in the body. While it is usually associated with bodybuilding and sports performance products, it's also produced in the body naturally.

"Creatine is essential to the body storing and retrieving energy for normal function of muscle and brain," said Dwight D. Koeberl, MD, Associate Professor Department of Pediatrics at Duke University.

However, some newborns do not make any creatine, which can result in permanent brain damage if it isn't caught early.

Klor is one of the lucky ones. He began to walk and talk within a few months of changing his diet and adding supplements.

"Watching him develop and grow and do things that at one point I thought he'd never do, was incredible to watch," said his mother.

Researchers are now pushing for newborn screenings that would use the same blood test that screens for other disorders. Currently, Washington state does not screen for creatine disorders.

Klor's mother started a website to raise awareness of the condition that researchers believe is under-diagnosed.

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