TY - JOUR
T1 - Reversible brain creatine deficiency in two sisters with normal blood creatine level
AU - Bianchi, Maria Cristina
AU - Tosetti, Michela
AU - Fornai, Francesco
AU - Alessandri', Maria Grazia
AU - Cipriani, Paola
AU - De Vito, Giuseppe
AU - Canapicchi, Raffaello
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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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U2 - 10.1002/1531-8249(200004)47:4<511::AID-ANA15>3.0.CO;2-N
DO - 10.1002/1531-8249(200004)47:4<511::AID-ANA15>3.0.CO;2-N
M3 - Article
C2 - 10762163
AN - SCOPUS:0034077740
VL - 47
SP - 511
EP - 513
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 4
ER -