Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1999401 | Molecular Genetics and Metabolism | 2010 | 4 Pages |
Abstract
A female heterozygous for a novel, disease causing, missense mutation in the X-linked cerebral creatine transporter (SLC6A8) gene (c.1067G > T, p.Gly356Val) presented with intractable epilepsy, mild intellectual disability and moderately reduced cerebral creatine levels. Treatment with creatine monohydrate, to enhance cerebral creatine transport, combined with l-arginine and l-glycine, to enhance cerebral creatine synthesis, resulted in complete resolution of seizures. Heterozygous SLC6A8 deficiency is a potentially treatable condition and should be considered in females with intractable epilepsy and developmental delay/intellectual disability.
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Authors
Saadet Mercimek-Mahmutoglu, Mary B. Connolly, Kenneth J. Poskitt, Gabriella A. Horvath, Noel Lowry, Gajja S. Salomons, Brett Casey, Graham Sinclair, Cynthia Davis, Cornelis Jakobs, Sylvia Stockler-Ipsiroglu,