Creatine Deficiency, X-Linked

Common Name(s)

Creatine Deficiency, X-Linked

Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment (summary by {14:van de Kamp et al., 2011}). Genetic Heterogeneity of Cerebral Creatine Deficiency Syndrome See also CCDS2 ({612736}), caused by mutation in the GAMT gene ({601240}) on chromosome 19p13, and CCDS3 ({612718}), caused by mutation in the AGAT gene (GATM; {602360}) on chromosome 15q15.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Creatine Deficiency, X-Linked" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.