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Ann Neurol. 2000 Apr;47(4):511-3.

Reversible brain creatine deficiency in two sisters with normal blood creatine level.

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Neuroradiology Department, S Chiara Hospital, Pisa, Italy.


We describe a new creatine metabolism disorder in 2 young sisters who suffered from mental retardation and severe language delay. Blood examination, investigation of the most common neurometabolic disorders, and brain magnetic resonance imaging were normal. Diagnosis was established only by means of in vivo proton magnetic resonance spectroscopy, which disclosed generalized depletion of creatine in the brain. Creatine monohydrate oral administration led to almost complete brain creatine level restoration along with improvement of the patients' disabilities.

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