Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

被引：38

作者：

de Kamp, Jiddeke M. van ^{[1
]}

Pouwels, Petra J. W. ^{[2
]}

Aarsen, Femke K. ^{[3
]}

ten Hoopen, Leontine W. ^{[4
]}

Knol, Dirk L. ^{[5
]}

de Klerk, Johannes B. ^{[6
]}

de Coo, Ireneus F. ^{[3
]}

Huijmans, Jan G. M. ^{[7
]}

Jakobs, Cornelis ^{[8
]}

van der Knaap, Marjo S. ^{[9
]}

Salomons, Gajja S. ^{[8
]}

Mancini, Grazia M. S. ^{[7
]}

机构：

[1] Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, NL-1007 MB Amsterdam, Netherlands

[2] Vrije Univ Amsterdam, Med Ctr, Dept Phys & Med Technol, NL-1007 MB Amsterdam, Netherlands

[3] Erasmus Univ, Med Ctr, Dept Child Neurol, Rotterdam, Netherlands

[4] Erasmus Univ, Med Ctr, Dept Child & Adolescent Psychiat, Rotterdam, Netherlands

[5] Vrije Univ Amsterdam, Med Ctr, Dept Epidemiol & Biostat, NL-1007 MB Amsterdam, Netherlands

[6] Erasmus Univ, Med Ctr, Dept Pediat, Metab Dis Sect, Rotterdam, Netherlands

[7] Erasmus Univ, Med Ctr, Dept Clin Genet, Rotterdam, Netherlands

[8] Vrije Univ Amsterdam, Med Ctr, Dept Clin Chem, Metab Unit, NL-1007 MB Amsterdam, Netherlands

[9] Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, NL-1007 MB Amsterdam, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2012年 / 35卷 / 01期

关键词：

GENE SLC6A8; MENTAL-RETARDATION; RAT-BRAIN; DEFICIENCY SYNDROMES; MR SPECTROSCOPY; IN-VIVO; MUTATION; GUANIDINOACETATE; AGAT; GAMT;

D O I：

10.1007/s10545-011-9345-1

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：141 / 149

页数：9

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