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
At this level, Creatine Transporter Defect (CTD) is the second most common cause of X-linked mental retardation.
Creatine Transporter Defect, an X-linked, inherited error of metabolism, was identified in 2001 in collaboration between Avicena and researchers at the University of Cincinnati and Cincinnati Children's Hospital Medical Center.
In addition to HD and Parkinson's disease, the company is also advancing a Phase III ALS program, as well as earlier-stage clinical programs in diseases such as creatine transporter defect (CTD), Duchenne Muscular Dystrophy (DMD), and Charcot-Marie-Tooth Syndrome (CMT).
Cecil, PhD, research assistant professor, Pediatrics-Department of Radiology, UC, Cincinnati Children's, first detected the creatine transporter defect in a six-year-old boy three years ago.
Cecil was part of the research team that first detected the creatine transporter defect in a six-year-old boy three years ago.
However, when two boys were identified with creatine transporter defects within a nine-month period at Cincinnati Children's, clinicians and researchers felt the syndrome may be more common.
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