Abstract
Total creatine (tCr) constitutes one of the most prominent signals in human brain MR spectra. A significant decrease in the tCr signal indicates a severe disorder of creatine metabolism. We describe the potential of 1H MR spectroscopy in differential diagnosis of creatine transporter (SLC6A8) deficiency syndrome. Two siblings, a 7-year-old female presenting with mild psychomotor delay, and a 5-year-old male with severe psychomotor retardation, epilepsy and autistic spectrum of problems including speech delay, underwent MR examination because of suspected creatine deficiency. After the MRI examination, 1H MR spectroscopy using the CSI technique was performed. Metabolic images of N-acetylaspartate, tCr and choline concentrations showed a very low tCr signal in the male, which was approximately three times lower than in his sister (male/female/controls: tCr=1.6/4.6/7.5 mM). Despite creatine supplementation, no improvement in clinical status and tCr concentration in the MR spectra of the male was observed and diagnosis of SLC6A8 deficiency was proposed. Sequence analysis of the SLC6A8 gene revealed a novel pathogenic frameshift mutation c.219delC; p.Asn74ThrfsX23, hemizygous in the male and heterozygous in the female. The diagnosis...Continue Reading
References
Dec 1, 1993·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·S W Provencher
Jan 1, 1997·Archives of Physical Medicine and Rehabilitation·K A Alley, L V Thompson
Jan 1, 1997·Magnetic Resonance Imaging·J M Wild, I Marshall
Dec 5, 1997·The Journal of Pediatrics·A SchulzeD Rating
Mar 4, 2000·Magma·M HájekM Dezortová
Sep 7, 2000·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·M A McLeanJ S Duncan
Mar 23, 2001·Annals of Neurology·K M CecilT J DeGrauw
Apr 28, 2001·American Journal of Human Genetics·G S SalomonsC Jakobs
Sep 5, 2002·Annals of Neurology·Alberto BizziGraziella Uziel
Jan 22, 2003·Neuropediatrics·T J deGrauwC Jakobs
Jan 25, 2003·Journal of Computer Assisted Tomography·Kim M CecilJoseph F Clark
Jan 31, 2003·Annals of Neurology·Andreas SchulzeErtan Mayatepek
Aug 2, 2003·Journal of Inherited Metabolic Disease·G S SalomonsC Jakobs
Jul 6, 2004·Molecular Genetics and Metabolism·R EnsenauerW Lehnert
Sep 30, 2004·NMR in Biomedicine·E E BriefA L MacKay
Apr 1, 2005·Revue neurologique·D CheillanC Vianey-Saban
Apr 28, 2005·European Radiology·P E SijensM Oudkerk
Sep 20, 2005·Clinica Chimica Acta; International Journal of Clinical Chemistry·Nanda M VerhoevenCornelis Jakobs
Jan 18, 2006·Magma·F JiruM Hajek
Apr 8, 2006·Journal of Inherited Metabolic Disease·I A AnselmD Marsden
Mar 20, 2008·Neurogenetics·Ofir T BetsalelGajja S Salomons
Apr 9, 2008·Journal of Inherited Metabolic Disease·O Braissant, H Henry
Citations
Jan 19, 2012·Journal of Inherited Metabolic Disease·Olivier Braissant
May 7, 2013·Journal of Medical Genetics·J M van de KampG S Salomons
May 11, 2011·Journal of Inherited Metabolic Disease·Jiddeke M van de KampGrazia M S Mancini
May 3, 2014·Journal of Inherited Metabolic Disease·Jiddeke M van de KampGajja S Salomons
Jan 28, 2012·Molecular Genetics and Metabolism·Ofir T BetsalelGajja S Salomons
Jun 10, 2010·Clinical Genetics·J M van de KampG S Salomons
May 29, 2016·Pediatric Radiology·Jacques F Schneider
Aug 22, 2021·Brain Research·Steven Andrew BakerThomas J Montine