Characteristics
Research in Cerebral Creatine Deficiency Syndromes has found that certain people are born with the inability to transport Creatine, a byproduct of the ATP Metabolic Process, into their brains. There are several different types of Cerebral Creatine Deficiency Syndromes or CCDS, with the majority of individuals with the subtype, "GAMT" deficiency have a behavior disorder that can include autistic behaviors and self-mutilation. Another subtype, "SLC6A8" deficiency in males ranges from mild intellectual disability and speech delay to severe intellectual disability, seizures, and behavior disorder, all characteristics of Autism. Females usually only suffer from the subtype "SLC6A8" deficiency may have learning and behavior problems.
Diagnosis / Testing.
Here's the best part, it's fairly easy to test your Autistic Child for CCDS with an MRI, which can then be confirmed with a blood test.
Management.
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GAMT deficiency and the much rarer AGAT deficiency are treated with oral creatine monohydrate to increase cerebral creatine levels. Treatment of GAMT deficiency may also require supplementation of ornithine and dietary restriction of arginine. Unfortunately, in males with SLC6A8 deficiency creatine supplementation alone does not improve outcome (other than perhaps better muscle tone, for those suffering from low muscle tone) and does not result in increased cerebral creatine levels; likewise, high-dose L-arginine and L-glycine supplementation did not improve clinical or biochemical outcome. One female with intractable epilepsy responded to high-dose L-arginine and L-glycine supplementation with cessation of seizures.
Prevention.
Whether early treatment prevents disease manifestations is unknown; however, newborn sibs of individuals with AGAT or GAMT deficiency seem to benefit from early treatment.
For the full details of the NIH Article by Drs' Saadet Mercimek-Mahmutoglu, MD, FCCMG, Sylvia Stöckler-Ipsiroglu, MD, PhD, MBA,FRCPC, and Gajja S Salomons, PhD. click here.
