creatine deficiency syndrome, X-linked

(redirected from creatine transporter defect)

creatine deficiency syndrome, X-linked

An X-linked condition (OMIM:300352) characterised by developmental delay, hypotonia, mental retardation, seizures, short stature, and midfacial hypoplasia.
 
Molecular pathology
Defects in SLC6A8, which encodes a plasma membrane protein that transports creatine into and out of muscle and the brain, cause X-linked creatine deficiency syndrome.
References in periodicals archive ?
based in Palo Alto, CA and Cambridge, MA, has formed a collaboration with The University of Cincinnati Medical Center and the Cincinnati Children's Hospital Medical Center to research the efficacy of creatine in the treatment of creatine transporter defect.
Cecil, PhD, research assistant professor, Pediatrics-Department of Radiology, UC, CCHMC, first detected the creatine transporter defect in a six-year-old boy three years ago.
INDUSTRY KEYWORDS: AVICENA GROUP, CREATINE, CREATINE KINASE, PROTEINS, CREATINE TRANSPORTER DEFECT, MENTAL RETARDATION, X-CHROMOSOME LINKED DISEASES
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