Although cognitive impairment and developmental delay are the hallmarks of human Cr deficiency syndromes, muscular hypotonia and myopathy were also described in patients with AGAT, GAMT, and CT1 deficiency (Stockler et al., 1996; Anselm et al., 2006; Nouioua et al., 2013). The gene discussed is SLC6A8; the disease is myopathy.