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

Maria Cristina Bianchi, Michela Tosetti, Francesco Fornai, Maria Grazia Alessandri', Paola Cipriani, Giuseppe De Vito, Raffaello Canapicchi

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)511-513
Number of pages3
JournalAnnals of Neurology
Volume47
Issue number4
DOIs
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Neuroscience(all)

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