X-Linked Creatine DeficiencySymptoms, Doctors, Treatments, Advances & More
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 practicing medicine in Pisa, Italy. Ms. Baroncelli is rated as an Elite expert by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses X-Linked Creatine Deficiency, Amblyopia, Seizures, and Autism Spectrum Disorder.
Tommaso Pizzorusso practices practicing medicine in Pisa, Italy. Mr. Pizzorusso is rated as an Elite expert by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses X-Linked Creatine Deficiency, CDKL5 Deficiency Disorder, Rett Syndrome, and West Syndrome.
Giulia Sagona practices practicing medicine in Pisa, Italy. Ms. Sagona is rated as an Elite expert by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses X-Linked Creatine Deficiency, CDKL5 Deficiency Disorder, West Syndrome, and Spasmus Nutans.
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...
Summary: Creatine transport deficiency (CTD) is a rare genetic disorder related to pathogenic variants in the SLC6A8 gene, located on chromosome Xq28. Clinical diagnosis of CTD is based on clinical presentation, an increased urinary creatine/creatinine ratio and a severe decreased creatine peak on 1H-MRS magnetic resonance spectroscopy. A retrospective study with questionnaires identified that most CTD pat...
Published Date: February 06, 2023
Published By: National Institutes of Health