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Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.

Abstract
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.
AuthorsHidekazu Kato, Fuyu Miyake, Hiroko Shimbo, Makoto Ohya, Hidenori Sugawara, Noriko Aida, Rie Anzai, Mariko Takagi, Mitsuko Okuda, Kyoko Takano, Takahito Wada, Mizue Iai, Sumimasa Yamashita, Hitoshi Osaka
JournalBrain & development (Brain Dev) Vol. 36 Issue 7 Pg. 630-3 (Aug 2014) ISSN: 1872-7131 [Electronic] Netherlands
PMID24045174 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Chemical References
  • Nerve Tissue Proteins
  • Plasma Membrane Neurotransmitter Transport Proteins
  • SLC6A8 protein, human
  • Creatine
Topics
  • Asian People
  • Brain Diseases, Metabolic, Inborn (complications, diagnosis, genetics, urine)
  • Child
  • Creatine (deficiency, genetics, urine)
  • Developmental Disabilities (complications, genetics)
  • Humans
  • Male
  • Mental Retardation, X-Linked (complications, diagnosis, genetics, urine)
  • Mutation, Missense
  • Nerve Tissue Proteins (genetics)
  • Pedigree
  • Plasma Membrane Neurotransmitter Transport Proteins (deficiency, genetics, urine)

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