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Long‐term follow‐up and treatment in nine boys with X‐linked creatine transporter defect
Author(s) -
Kamp Jiddeke M.,
Pouwels Petra J. W.,
Aarsen Femke K.,
Hoopen Leontine W.,
Knol Dirk L.,
Klerk Johannes B.,
Coo Ireneus F.,
Huijmans Jan G. M.,
Jakobs Cornelis,
Knaap Marjo S.,
Salomons Gajja S.,
Mancini Grazia M. S.
Publication year - 2012
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9345-1
Subject(s) - medicine , creatine , human genetics , term (time) , pediatrics , endocrinology , genetics , biology , gene , physics , quantum mechanics
The creatine transporter (CRTR) defect is a recently discovered cause of X‐linked intellectual disability for which treatment options have been explored. Creatine monotherapy has not proved effective, and the effect of treatment with L‐arginine is still controversial. Nine boys between 8 months and 10 years old with molecularly confirmed CRTR defect were followed with repeated 1 H‐MRS and neuropsychological assessments during 4–6 years of combination treatment with creatine monohydrate, L‐arginine, and glycine. Treatment did not lead to a significant increase in cerebral creatine content as observed with H 1 ‐MRS. After an initial improvement in locomotor and personal‐social IQ subscales, no lasting clinical improvement was recorded. Additionally, we noticed an age‐related decline in IQ subscales in boys affected with the CRTR defect.