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Diseases

Genetic and Rare Diseases Information Center (GARD)

X-linked creatine deficiency


Other Names for this Disease
  • Mental retardation , X-linked with seizures, short stature and midface hypoplasia
  • Mental retardation , X-linked, with creatine transport deficiency
  • X-linked creatine transporter deficiency
  • X-linked creatine deficiency syndrome
  • Creatine deficiency, X-linked
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Overview

X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected people may have distinctive facial features, heart abnormalities, and gastrointestinal disorders. X-linked creatine deficiency is caused by changes (mutations) in the SLC6A8 gene and is inherited in an X-linked manner. Treatment with high doses of creatine monohydrate, L-arginine, and L-glycine has been used to treat some of the symptoms associated with X-linked creatine deficiency with variable success.[1][2][3]
Last updated: 11/5/2015

References

  1. X-linked creatine deficiency. Genetics Home Reference. June 2015; http://ghr.nlm.nih.gov/condition/x-linked-creatine-deficiency.
  2. Saadet Mercimek-Mahmutoglu, MD, FCCMG, Sylvia Stöckler-Ipsiroglu, MD, PhD, MBA,FRCPC, and Gajja S Salomons, PhD. Creatine Deficiency Syndromes. GeneReviews. August 2011; http://www.ncbi.nlm.nih.gov/books/NBK3794/#creatine.Management.
  3. X-linked creatine transporter deficiency. Orphanet. December 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503.
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Basic Information

  • Genetics Home Reference (GHR) contains information on X-linked creatine deficiency. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked creatine deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Mental retardation , X-linked with seizures, short stature and midface hypoplasia
  • Mental retardation , X-linked, with creatine transport deficiency
  • X-linked creatine transporter deficiency
  • X-linked creatine deficiency syndrome
  • Creatine deficiency, X-linked
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.