X-Linked Creatine Deficiency Overview
Learn About X-Linked Creatine Deficiency
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 attention-deficit/hyperactivity disorder (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.
Variants (also known as mutations) in the SLC6A8 gene cause X-linked creatine deficiency. The SLC6A8 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.
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.
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 (who have two X chromosomes), a variant in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have only one X chromosome), 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.
Laura Baroncelli practices in Pisa, Italy. Baroncelli and is rated as an Elite expert by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are X-Linked Creatine Deficiency, Amblyopia, Rett Syndrome, and Seizures.
Tommaso Pizzorusso practices in Pisa, Italy. Pizzorusso and is rated as an Elite expert by MediFind in the treatment of X-Linked Creatine Deficiency. His top areas of expertise are X-Linked Creatine Deficiency, CDKL5 Deficiency Disorder, Rett Syndrome, and West Syndrome.
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Nicola Longo is a Medical Genetics specialist and a Pediatrics provider in Los Angeles, California. Dr. Longo has been practicing medicine for over 43 years and is rated as an Elite provider by MediFind in the treatment of X-Linked Creatine Deficiency. Her top areas of expertise are Phenylketonuria (PKU), Urea Cycle Disorders (UCD), Primary Carnitine Deficiency, and X-Linked Creatine Deficiency. Dr. Longo is currently accepting new patients.
Background: Neurocognitive disorders affect how the brain uses oxygen. They may affect mental development in children. These disorders can be studied with imaging scans that use radiation; however, these methods are not ideal for research on children. Two technologies-functional near-infrared spectroscopy (fNIRS) and diffuse correlation spectroscopy (DCS)-use light to detect changes in brain activity. These m...
Background: Creatine transporter deficiency (CTD) is a genetic disorder that mainly affects the brain in males. CTD causes intellectual disability that can be mild to severe. People with CTD may have seizures and behavioral issues. They may have slow growth and tire easily. CTD may sometimes be confused with autism or other disorders. Better diagnostics are needed. The study team in an NIH study noted that th...
Published Date: February 06, 2023
Published By: National Institutes of Health