The ACD is headed to Global Genes and Children's Neurology Society this fall.
Cerebral Creatine Deficiency Syndromes (CCDS) are a group of inborn errors of creatine metabolism including AGAT, CTD, and GAMT. Symptoms may include: intellectual delays, expressive speech and language delay, autistic-like behavior, hyperactivity, seizures, projectile vomiting in infancy, failure to thrive, and movement disorders.
Creatine helps supply energy to all cells in the body. It helps increase adenosine triphosphate (ATP).
Creatine is produced in the liver, which makes it out of three amino acids: arginine, glycine and methionine. Most of our body's creatine (approximately 95%) is stored in the muscles that support the skeleton.
We just had our first big family vacation. Overall it really was great, we had good strong family moments, Lilah got to chase seagulls, Tyler got to ride in a helicopter, and I got to swim in a tank with dolphins! We had some magnificent food and a good recharge from work and social life. You know what we didn’t get a break from? Our CTD world. Continue reading
September is National Newborn Screening Awareness Month, and on that note, we would like to share with you the 2018 CCDS Symposium presentation “Qualifying Newborn Screening.” Continue reading
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