Literature DB >> 12544242

Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency.

Kim M Cecil1, Ton J DeGrauw, Gajja S Salomons, Cornelis Jakobs, John C Egelhoff, Joseph F Clark.   

Abstract

An X-linked creatine deficiency syndrome caused by mutations in the creatine transporter gene SLC6A8/CRTR mapped to Xq28 has recently been described. Essential in the recognition of this disorder is the absence of creatine on proton magnetic resonance spectroscopy (MRS) examination. A 9-day-old heterozygous female child with this syndrome demonstrated a significant reduction of creatine on proton MRS. She is a carrier of the R514X nonsense mutation.

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Year:  2003        PMID： 12544242     DOI： 10.1097/00004728-200301000-00009

Source DB:  PubMed          Journal:  J Comput Assist Tomogr        ISSN： 0363-8715            Impact factor:   1.826


  14 in total

Review 1.  Efficacy of proton magnetic resonance spectroscopy in neurological diagnosis and neurotherapeutic decision making.

Authors:  Alexander Lin; Brian D Ross; Kent Harris; Willis Wong
Journal:  NeuroRx       Date:  2005-04

2.  Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study.

Authors:  Gail J Pyne-Geithman; Ton J deGrauw; Kim M Cecil; Gail Chuck; Melissa A Lyons; Yukisato Ishida; Joseph F Clark
Journal:  Mol Cell Biochem       Date:  2004-07       Impact factor: 3.396

Review 3.  Autism-lessons from the X chromosome.

Authors:  Elysa J Marco; David H Skuse
Journal:  Soc Cogn Affect Neurosci       Date:  2006-12       Impact factor: 3.436

Review 4.  In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

Authors:  Erica B Sherry; Phil Lee; In-Young Choi
Journal:  Neurochem Res       Date:  2015-11-26       Impact factor: 3.996

5.  Creatine transporters: a reappraisal.

Authors:  Oliver Speer; Lukas J Neukomm; Robyn M Murphy; Elsa Zanolla; Uwe Schlattner; Hugues Henry; Rodney J Snow; Theo Wallimann
Journal:  Mol Cell Biochem       Date:  2004 Jan-Feb       Impact factor: 3.396

6.  Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits.

Authors:  Emily R Hautman; Amanda N Kokenge; Kenea C Udobi; Michael T Williams; Charles V Vorhees; Matthew R Skelton
Journal:  J Inherit Metab Dis       Date:  2013-05-29       Impact factor: 4.982

7.  A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.

Authors:  S Dreha-Kulaczewski; V Kalscheuer; A Tzschach; H Hu; G Helms; K Brockmann; A Weddige; P Dechent; G Schlüter; R Krätzner; H-H Ropers; J Gärtner; B Zirn
Journal:  JIMD Rep       Date:  2013-11-05

Review 8.  X-linked creatine transporter defect: an overview.

Authors:  G S Salomons; S J M van Dooren; N M Verhoeven; D Marsden; C Schwartz; K M Cecil; T J DeGrauw; C Jakobs
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 9.  AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.

Authors:  O Braissant; H Henry
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982

Review 10.  Neonatal neuroimaging findings in inborn errors of metabolism.

Authors:  Andrea Poretti; Susan I Blaser; Maarten H Lequin; Ali Fatemi; Avner Meoded; Frances J Northington; Eugen Boltshauser; Thierry A G M Huisman
Journal:  J Magn Reson Imaging       Date:  2012-05-07       Impact factor: 4.813
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