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<span>X-linked creatine deficiency</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/x-linked-creatine-deficiency/</span>
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<article>
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<div class="page-title">
<a name="start" id="start"></a>
<h1>X-linked creatine deficiency</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as <a data-pid="16985" href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">attention-deficit/hyperactivity disorder</a> (ADHD) or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may grow slower and develop motor skills, such as sitting and walking, later than their peers. Affected individuals tend to tire easily.</p><p>A small number of people with X-linked creatine deficiency have additional signs and symptoms including abnormal heart rhythms, an unusually small head (<a class="image-modal" data-alt="Side view photo of a man showing a small cranium and a sloping forehead" data-caption="Decreased size of the cranium is accompanied by marked posterior sloping of the forehead." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001G1_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001G1" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=8ae2118220c1308f" data-title="Microcephaly" href="https://medlineplus.gov/images/PX0001G1_PRESENTATION.jpeg" id="PX0001G1_2" title="Show image">microcephaly<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), or distinctive facial features such as a broad forehead and a flat or sunken appearance of the middle of the face (<a class="image-modal" data-alt="Four photographs of two people, each with midface hypoplasia. Each person's face is shown from the front and side views." data-caption="Note underdevelopment of the infra-orbital and peri-alar regions leading to more pronounced concavity of the face and reduced nasolabial angle. This gives the appearance of prognathia." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001KU_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001KU" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=5b7ad34ab35682b5" data-title="Midface hypoplasia" href="https://medlineplus.gov/images/PX0001KU_PRESENTATION.jpeg" id="PX0001KU_3" title="Show image">midface hypoplasia<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>).</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>The prevalence of X-linked creatine deficiency is unknown. More than 150 affected individuals have been identified. The disorder has been estimated to account for between 1 and 2 percent of males with intellectual disability.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Variants (also known as mutations) in the <em><a data-pid="18685" href="https://medlineplus.gov/genetics/gene/slc6a8/">SLC6A8</a></em> gene cause X-linked creatine deficiency. The <em>SLC6A8</em> gene provides instructions for making a protein that transports a compound called creatine into cells. Creatine is needed for the body to store and use energy properly.</p><p><em>SLC6A8</em> gene variants impair the transporter protein's ability to bring creatine into cells, resulting in a shortage (deficiency) of creatine. The effects of creatine deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with X-linked creatine deficiency</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/slc6a8/">SLC6A8</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (<a class="image-modal" data-alt="Normal human karyotype with 22 pairs of autosomes and two sex chromosomes, either two X chromosomes or an X and a Y chromosome." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009W_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009W" data-sourceurl="" data-title="Normal human karyotype" href="https://medlineplus.gov/images/PX00009W_PRESENTATION.jpeg" id="PX00009W_1" title="Show image">who have two X chromosomes<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), a variant in one of the two copies of the gene in each cell may or may not cause the disorder. In males (<a class="image-modal" data-alt="A normal male karyotype, it contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes." data-caption="" data-credit="National Cancer Institute" data-filepath="images/PX000024_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000024" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=2721" data-title="Normal human male karyotype" href="https://medlineplus.gov/images/PX000024_PRESENTATION.jpeg" id="PX000024_2" title="Show image">who have only one X chromosome<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), a variant in the only copy of the gene in each cell causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.</p><p>In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. About half of females with one altered copy of the <em><a data-pid="18685" href="https://medlineplus.gov/genetics/gene/slc6a8/">SLC6A8</a></em> gene in each cell have intellectual disability, learning difficulties, or behavioral problems. Other females with one altered copy of the <em>SLC6A8</em> gene in each cell have no noticeable neurological problems.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Creatine transporter defect</li> <li>Creatine transporter deficiency</li> <li>SLC6A8 deficiency</li> <li>SLC6A8-related creatine transporter deficiency</li> <li>X-linked creatine deficiency syndrome</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1845862/" target="TheNewWin">Genetic Testing Registry: Creatine transporter deficiency</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/1608/index" target="TheNewWin">X-linked creatine transporter deficiency</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22X-linked creatine deficiency%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/300352" target="TheNewWin">CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28x-linked+creatine+deficiency+syndrome%5BTIAB%5D%29+OR+%28creatine+transporter+deficiency%5BTIAB%5D%29+OR+%28creatine+transporter+defect%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Beard E, Braissant O. Synthesis and transport of creatine in the CNS:
importance for cerebral functions. J Neurochem. 2010 Oct;115(2):297-313. doi:
10.1111/j.1471-4159.2010.06935.x. Epub 2010 Aug 25. <a href="https://pubmed.ncbi.nlm.nih.gov/20796169" target="TheNewWin">Citation on PubMed</a></li>
<li>Braissant O, Henry H, Beard E, Uldry J. Creatine deficiency syndromes and the
importance of creatine synthesis in the brain. Amino Acids. 2011
May;40(5):1315-24. doi: 10.1007/s00726-011-0852-z. Epub 2011 Mar 10. <a href="https://pubmed.ncbi.nlm.nih.gov/21390529" target="TheNewWin">Citation on PubMed</a></li>
<li>Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz
CE, Salomons GS. X-linked creatine transporter (SLC6A8) mutations in about 1% of
males with mental retardation of unknown etiology. Hum Genet. 2006
Jul;119(6):604-10. doi: 10.1007/s00439-006-0162-9. Epub 2006 Apr 26. <a href="https://pubmed.ncbi.nlm.nih.gov/16738945" target="TheNewWin">Citation on PubMed</a></li>
<li>Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud
D, Sun Q, Wong LJ. Biochemical, molecular, and clinical diagnoses of patients
with cerebral creatine deficiency syndromes. Mol Genet Metab. 2013
Jul;109(3):260-8. doi: 10.1016/j.ymgme.2013.04.006. Epub 2013 Apr 17. <a href="https://pubmed.ncbi.nlm.nih.gov/23660394" target="TheNewWin">Citation on PubMed</a></li>
<li>Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD.
Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review
of the literature and three new cases. Mol Genet Metab. 2014 Aug;112(4):259-74.
doi: 10.1016/j.ymgme.2014.05.011. Epub 2014 May 29. <a href="https://pubmed.ncbi.nlm.nih.gov/24953403" target="TheNewWin">Citation on PubMed</a></li>
<li>Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali M. Disorders of creatine
transport and metabolism. Am J Med Genet C Semin Med Genet. 2011 Feb
15;157C(1):72-8. doi: 10.1002/ajmg.c.30292. Epub 2011 Feb 9. <a href="https://pubmed.ncbi.nlm.nih.gov/21308988" target="TheNewWin">Citation on PubMed</a></li>
<li>Nasrallah F, Feki M, Kaabachi N. Creatine and creatine deficiency syndromes:
biochemical and clinical aspects. Pediatr Neurol. 2010 Mar;42(3):163-71. doi:
10.1016/j.pediatrneurol.2009.07.015. <a href="https://pubmed.ncbi.nlm.nih.gov/20159424" target="TheNewWin">Citation on PubMed</a></li>
<li>Stockler-Ipsiroglu S, van Karnebeek CD. Cerebral creatine deficiencies: a
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