title: 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.
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Hidekazu
authors.initials: H
authors.lastname: Kato
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Fuyu
authors.initials: F
authors.lastname: Miyake
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Shimbo
authors.affiliation: Department of Pediatrics, Odawara City Hospital, Yokohama, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Ohya
authors.affiliation: Department of Pediatrics, Odawara City Hospital, Yokohama, Japan.
authors.forename: Hidenori
authors.initials: H
authors.lastname: Sugawara
authors.affiliation: Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Aida
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Rie
authors.initials: R
authors.lastname: Anzai
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Takagi
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Okuda
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Takano
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan. Electronic address: takahito.wada0001@me.com.
authors.forename: Takahito
authors.initials: T
authors.lastname: Wada
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Mizue
authors.initials: M
authors.lastname: Iai
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Sumimasa
authors.initials: S
authors.lastname: Yamashita
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Osaka
mesh_terms: D044466:Asian People; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000652:urine; D002648:Child; D003401:Creatine / Q000172:deficiency* / Q000235:genetics / Q000652:urine; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000652:urine; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000172:deficiency* / Q000235:genetics / Q000652:urine
chemical_list: D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human; D003401:Creatine
keywords: Creatine deficiency syndrome; Intellectual disability; Mental retardation; Urine screening; X-linked