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 {15: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 15q21.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Association for Creatine Deficiencies

The Association for Creatine Deficiencies is committed to providing patient, family and public education to advocate for early intervention through newborn screening, and to promote and fund medical research for treatments and cures for Creatine Deficiency Syndromes.

Last Updated: 12 Feb 2016

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Association for Creatine Deficiencies

The Association for Creatine Deficiencies is committed to providing patient, family and public education to advocate for early intervention through newborn screening, and to promote and fund medical research for treatments and cures for Creatine Deficiency Syndromes.

http://creatineinfo.org

Last Updated: 12 Feb 2016

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Creatine Deficiency, X-Linked" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Creatine Deficiency, X-Linked" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.