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

Hidekazu 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

doi:10.1016/j.braindev.2013.08.004

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

Brain Dev. 2014 Aug;36(7):630-3. doi: 10.1016/j.braindev.2013.08.004. Epub 2013 Sep 14.

Authors

Affiliations

¹ Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
² Department of Pediatrics, Odawara City Hospital, Yokohama, Japan.
³ Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan.
⁴ Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan. Electronic address: takahito.wada0001@me.com.

PMID: 24045174
DOI: 10.1016/j.braindev.2013.08.004

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.

Keywords: Creatine deficiency syndrome; Intellectual disability; Mental retardation; Urine screening; X-linked.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Asian People
Brain Diseases, Metabolic, Inborn / complications
Brain Diseases, Metabolic, Inborn / diagnosis*
Brain Diseases, Metabolic, Inborn / genetics*
Brain Diseases, Metabolic, Inborn / urine
Child
Creatine / deficiency*
Creatine / genetics
Creatine / urine
Developmental Disabilities / complications
Developmental Disabilities / genetics*
Humans
Male
Mental Retardation, X-Linked / complications
Mental Retardation, X-Linked / diagnosis*
Mental Retardation, X-Linked / genetics*
Mental Retardation, X-Linked / urine
Mutation, Missense
Nerve Tissue Proteins / genetics*
Pedigree
Plasma Membrane Neurotransmitter Transport Proteins / deficiency*
Plasma Membrane Neurotransmitter Transport Proteins / genetics
Plasma Membrane Neurotransmitter Transport Proteins / urine

Substances

Nerve Tissue Proteins
Plasma Membrane Neurotransmitter Transport Proteins
SLC6A8 protein, human
Creatine

Supplementary concepts

Creatine deficiency, X-linked