期刊
BRAIN & DEVELOPMENT
卷 36, 期 7, 页码 630-633出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2013.08.004
关键词
Intellectual disability; X-linked; Mental retardation; Creatine deficiency syndrome; Urine screening
资金
- Ministry of Health, Labour and Welfare [H22-nanchi-ippan-114]
- Kanagawa Pediatric Medical Fund
Creatine transporter deficiency (CTD) is an example of X-linked intellectual disability syndromes, caused by mutations in SLC6A8 on Xq28. Although this is the second most frequent genetic cause of intellectual disabilities in Europe or America after Fragile X syndrome, information on the morbidity of this disease is limited in Japan. Using the HPLC screening method we have established recently, we examined samples of urine of 105 patients (73 males and 32 females) with developmental disabilities at our medical center. And we have found a family with three ID boys with a novel missense mutation in SLC6A8. This is the second report of a Japanese family case of CTD. A systematic diagnostic system of this syndrome should be established in Japan to enable us to estimate its frequency and treatment. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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