X-linked creatine deficiency syndrome

Definition:

Creatine deficiency syndromes are inborn errors of metabolism resulting in a progressive encephalopathy with early onset mental retardation, extrapyramidal features, and drug resistant epilepsy. X-linked creatine deficiency syndrome is caused by mutations in SLC6A8 gene that encodes creatine transporter.

References:

[1]. Alberto Bizzi, et al. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol. 2002 Aug;52(2):227-31. [Content Brief]

[2]. Roberta Battini, et al. Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. Am J Med Genet A. 2007 Aug 1;143A(15):1771-4. [Content Brief]

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