Abstract
Article history: Received 4 November 2013 Accepted 5 November 2013 Available online 10 November 2013 SLC6A8 deficiencies), as well as intractable epilepsy (GAMT and SLC6A8 deficiencies), autism, automutilating behavior, extrapyramidal syndrome and hypotonia (GAMT deficiency). Their common phenotype (except for SLC6A8-deficient heterozygous females) is the virtual absence of Cr peak measured by H-MRS in cortex and basal ganglia [9,10]. The reason why CNS is the most affected organ in CDS, and particu-
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