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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

  • 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.