Creatine X-linked deficiency ..., (X-linked deficiency creatine) - Gen SLC6A8  

Creatine deficiency X - linked hereditary disorder is a mainly affects the brain. People with this disease have intellectual disabilities, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as hyperactivity or attention deficit autistic behaviors that affect communication and social interaction. Other signs of the disease may include seizures, delayed development of motor skills, abnormal heart rhythms, microcephaly, broad forehead and midface hypoplasia. Affected individuals tend to tire easily.

This process is due to mutations in the SLC6A8 gene (solute carrier family 6 member 8), located on the long arm of the X chromosome (Xq28). This gene encodes a protein that carries creatine compound in the cells. Creatine is necessary for the body store and use energy properly. Have identified at least 80 mutations in the gene SLC6A8 in people with creatine deficiency X - linked mutations in the gene affect the ability of the protein to transport creatine into cells, leading to a deficiency of creatine. The effects of creatine deficiency are more severe in the organs and tissues that require large amounts of energy, especially the brain.

This disease is inherited in an X - linked gene pattern associated with this change is on chromosome X. In women, a mutation in one of the two copies of the gene in each cell may or may not cause disruption. In males, a mutation in the single gene copy in each cell causes disease. A feature of the X - linked inheritance is that fathers can not pass X - linked traits to their sons chromosome. In most cases of X - linked inheritance, men suffer more severe symptoms of the disease than women. About half of women with a mutated copy of the gene SLC6A8 in each cell have intellectual disabilities, learning difficulties or behavioral problems. However, other women with a mutated copy of the gene SLC6A8 in each cell have no noticeable neurologic impairment.

Tests in IVAMI: in IVAMI perform detection of mutations associated with creatine deficiency X - linked, by complete PCR amplification of the gene exons SLC6A8, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).