caa a22 4500 467932832 CHVBK 20180406152948.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0212-4 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0212-4 X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism [Elektronische Daten] [P. Póo-Argüelles, A. Arias, M. Vilaseca, A. Ribes, R. Artuch, A. Sans-Fito, A. Moreno, C. Jakobs, G. Salomons] Summary: We describe the first two unrelated Spanish patients with creatine transporter deficiency initially identified by brain proton magnetic resonance spectroscopy (MRS). The clinical phenotype was characterized by severe mental retardation, epilepsy, autism, severe speech delay and absence of brain creatine by MRS. Urine creatine/creatinine ratio was increased and creatine uptake in fibroblasts was impaired in both patients. On DNA sequence analysis of the SLC6A8/creatine transporter gene, one hemizygous mutation was found in each patient: one mutation was novel and consisted of a deletion of two nucleotides c.878-879delTC in exon 5, resulting in a frameshift (p.Lys293fsX3), and in the other patient a known deletion of three nucleotides 1222-1224delTTC in exon 8 resulting in p.Phe408del. Creatine treatment for one year failed to improve the neurological symptoms and was associated with a striking increase in body weight in both patients (13 and 16 kg, respectively). SSIEM and Springer, 2006 Póo-Argüelles P. Departments of Neuropediatrics, Berlin aut Arias A. Department of Biochemistry, Hospital Sant Joan de Déu, Barcelona aut Vilaseca M. Department of Biochemistry, Hospital Sant Joan de Déu, Barcelona aut Ribes A. Institut de Bioquímica Clínica, Corporació Sanitària Clínic, Barcelona aut Artuch R. Department of Biochemistry, Hospital Sant Joan de Déu, Barcelona aut Sans-Fito A. Departments of Neuropediatrics, Berlin aut Moreno A. CETIR, Grup Mèdic, CDP Unitat Esplugues, Barcelona, Spain aut Jakobs C. Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands aut Salomons G. Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 220-223 0141-8955 29:1<220 2006 29 10545 https://doi.org/10.1007/s10545-006-0212-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0212-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Póo-Argüelles P. Departments of Neuropediatrics, Berlin aut NATIONALLICENCE 700 1- Arias A. Department of Biochemistry, Hospital Sant Joan de Déu, Barcelona aut NATIONALLICENCE 700 1- Vilaseca M. Department of Biochemistry, Hospital Sant Joan de Déu, Barcelona aut NATIONALLICENCE 700 1- Ribes A. Institut de Bioquímica Clínica, Corporació Sanitària Clínic, Barcelona aut NATIONALLICENCE 700 1- Artuch R. Department of Biochemistry, Hospital Sant Joan de Déu, Barcelona aut NATIONALLICENCE 700 1- Sans-Fito A. Departments of Neuropediatrics, Berlin aut NATIONALLICENCE 700 1- Moreno A. CETIR, Grup Mèdic, CDP Unitat Esplugues, Barcelona, Spain aut NATIONALLICENCE 700 1- Jakobs C. Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Salomons G. Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 220-223 0141-8955 29:1<220 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer