caa a22 4500 467932395 CHVBK 20180406152947.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0123-4 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0123-4 X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype [Elektronische Daten] [I. Anselm, F. Alkuraya, G. Salomons, C. Jakobs, A. Fulton, M. Mazumdar, M. Rivkin, R. Frye, T. Poussaint, D. Marsden] Summary: We report two unrelated boys with the X-linked creatine transporter defect (CRTR) and clinical features more severe than those previously described with this disorder. These two boys presented at ages 12 and 30 months with severe mental retardation, absent speech development, hypotonia, myopathy and extra-pyramidal movement disorder. One boy has seizures and some dysmorphic features; he also has evidence of an oxidative phosphorylation defect. They both had classical absence of creatine peak on brain magnetic resonance spectroscopy (MRS). In one, however, this critical finding was overlooked in the initial interpretation and was discovered upon subsequent review of the MRS. Molecular studies showed large genomic deletions of a large part of the 3′ end of the complete open reading frame of the SLC6A8 gene. This report emphasizes the importance of MRS in evaluating neurological symptoms, broadens the phenotypic spectrum of CRTR and adds knowledge about the pathogenesis of creatine depletion in the brain and retina. SSIEM and Springer, 2006 Anselm I. Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA aut Alkuraya F. Division of Genetics and Metabolism, Children's Hospital Boston, Harvard Medical School, 300 Longwood Ave., 02115, Boston, MA, USA aut Salomons G. Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands aut Jakobs C. Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands aut Fulton A. Department of Ophthalmology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA aut Mazumdar M. Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA aut Rivkin M. Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA aut Frye R. Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA aut Poussaint T. Department of Radiology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA aut Marsden D. Division of Genetics and Metabolism, Children's Hospital Boston, Harvard Medical School, 300 Longwood Ave., 02115, Boston, MA, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 214-219 0141-8955 29:1<214 2006 29 10545 https://doi.org/10.1007/s10545-006-0123-4 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0123-4 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Anselm I. Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA aut NATIONALLICENCE 700 1- Alkuraya F. Division of Genetics and Metabolism, Children's Hospital Boston, Harvard Medical School, 300 Longwood Ave., 02115, Boston, MA, USA aut NATIONALLICENCE 700 1- Salomons G. Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Jakobs C. Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Fulton A. Department of Ophthalmology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA aut NATIONALLICENCE 700 1- Mazumdar M. Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA aut NATIONALLICENCE 700 1- Rivkin M. Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA aut NATIONALLICENCE 700 1- Frye R. Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA aut NATIONALLICENCE 700 1- Poussaint T. Department of Radiology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA aut NATIONALLICENCE 700 1- Marsden D. Division of Genetics and Metabolism, Children's Hospital Boston, Harvard Medical School, 300 Longwood Ave., 02115, Boston, MA, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 214-219 0141-8955 29:1<214 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence SWISSBIB 467932395 BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer