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.
Vandever Medical Offices
Simona Bianconi is a Pediatrics specialist and a Medical Genetics provider practicing medicine in San Diego, California. Dr. Bianconi is rated as an Elite provider 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 Smith-Lemli-Opitz Syndrome, X-Linked Creatine Deficiency, Niemann-Pick Disease, and Reticulohistiocytoma. Dr. Bianconi is currently accepting new patients.
Summary: Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability. FXS and CTD affect hemizygous males and with highly variable severity heterozygous females. Both these neurodevelopmental disorders (NDDs) have a dramatic impact on the family quality of life and the health-care system. These disorders share ...
Summary: The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals with syndromic intellectual and developmental disorders. Participants will be asked to complete virtual study assessments at intake and then on a monthly basis for the durati...
Published Date: February 06, 2023
Published By: National Institutes of Health