Several rare inborn errors of metabolism that result in a lack of creatine and phosphorylcreatine in the brain and severe mental retardation have been identified. Other symptoms and signs, such as involuntary extrapyramidal movements, speech
disability, epilepsy, muscular hypotonia and weakness, and, in older patients, autism with self-injurious behaviour have also been reported (Wyss & Schulze 2002).
People involved in intense physical activity, vegetarians and those with muscle diseases may have lowered creatine levels.
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