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Creatine transporter defect
Creatine transporter defect (CTD) is an X-linked disorder of creatine metabolism caused by defective transport of creatine into the brain. The condition was initially described in reports in 2001. Hemizygous males with this condition show intellectual disability, speech delay, seizures, and behavioural abnormalities. Heterozygous females can have varying symptoms. CTD is caused by mutations in the ''SLC6A8'' gene, located at the Xq28 (short arm of the 'sex' chromosome). Clinically, it resembles the two other forms of cerebral creatine deficiencies (CCD's):
*L-arginine:glycine amidinotransferase deficiency, and
*guanidinoacetate methyltransferase deficiency.〔(【引用サイトリンク】 url = http://www.omim.org/entry/300352 )〕
==Diagnosis==
The diagnosis of CTD is usually suspected based on the clinical presentation. A family history of X-linked intellectual disability, developmental coordination disorder and seizures is strongly suggestive. The initial screening test is typically a measurement of urine creatine and creatinine. A ratio of creatine:creatinine of greater than 1.5 is suggestive of CTD. Biochemical screening tests are not always informative in heterozygous females.〔 Proton magnetic resonance spectroscopy will typically reveal the absence of a creatine peak, although this finding is shared amongst all cerebral creatine deficiencies. Follow-up testing can include genetic testing, such as sequencing, of ''SLC6A8''.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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