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Reversible brain creatine deficiency in two sisters with normal blood creatine level
Author(s) -
Bianchi Maria Cristina,
Tosetti Michela,
Fornai Francesco,
Grazia Alessandri' Maria,
Cipriani Paola,
De Vito Giuseppe,
Canapicchi Raffaello
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200004)47:4<511::aid-ana15>3.0.co;2-n
Subject(s) - creatine , magnetic resonance imaging , medicine , creatine monohydrate , proton magnetic resonance , endocrinology , pathology , nuclear magnetic resonance , radiology , physics , alternative medicine , placebo
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. Ann Neurol 2000;47:511–513.